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Den här studien handlar om grundskolans interna samverkan kring elever med neuropsykiatriska funktionsnedsättningar (NPF). Syftet med studien var att belysa hur samverkan mellan olika professioner i grundskolan kan utvecklas för att skapa en tillgänglig lärmiljö för elever med NPF. De frågeställningar som besvaras är: Hur beskriver lärare sin samverkan med andra professioner i grundskolan när det gäller skolsituationen för elever med NPF? Vad behöver enligt lärarna utvecklas när det gäller samverkan kring elever med NPF? Studien utgick från verksamhetsteori som bidrog till att samverkan kunde studeras på ett djupare plan. Sex grundskollärare intervjuades med halvstrukturerade intervjuer. Med tematisk- och verksamhetsteoretisk analys på studiens empiri framkom att samverkan mellan lärare och skolans övriga professioner inte sker i den utsträckning som lärare önskar. Kunskapsmässiga svårigheter är det vanligaste motivet för samverkan mellan lärare och andra professioner i skolan, där stöd av elevers sociala svårigheter och skolans förebyggande arbete får stå tillbaka. Det som enligt lärarna behöver utvecklas är att rektorn blir delaktig i skolans specialpedagogiska processer; Skolors organisatoriska arbete kring elever med NPF behöver förtydligas, både gällande motivet för samverkan, professioners ansvarsområden och att skolor skapar forum och rutiner för skolans professioner att mötas kring elever med NPF., This study is about the primary school's internal collaboration around pupil with neurodevelopmental disorders (NDD). The aim of this study was to highlight how cooperation between different professions in primary school can be developed to create an accessible learning environment for students with NDD. The questions that the study sets out to answer is: How do teachers describe their collaboration with other professions in elementary school regarding the school situation for students with NDD? According to the teachers, what needs to be developed in terms of collaboration around students with NDD? The study was based on an activity theory, which contributed to the fact that cooperation could be studied on a deeper level. Six primary school teachers were interviewed using semi-structured interviews. With a thematic- and activity theory analysis of the study's empirical data, it emerged that collaboration between teachers and the school´s other professions does not take place to the extent that teachers wish. Knowledge-related difficulties are the most common motive for teachers´collaboration with other professions in the school, here support of students´ social difficulties and the school´s preventive work may take a back seat. According to the teachers, what needs to be developed is for the principal to be involved in the school´s special education processes. Schools´ organizational work around students with NDD needs to be clarified, both regarding the motive for collaboration, professions´ areas of responsibility and that schools create forums and routines for the school´s professions to meet around students with NDD.

Syftet med uppsatsen var att undersöka hur familjebehandlare i socialtjänsten beskriver de kunskapsmässiga förutsättningarna i arbetet avseende neuropsykiatrisk funktionsnedsättning [NPF] samt att fördjupa förståelsen för hur detta upplevs kunna få betydelse för ett preventivt arbete gentemot föräldrar vars barn har en NPF-diagnos. Studien genomfördes genom semistrukturerade intervjuer med sex familjebehandlare inom socialtjänsten i fem mindre kommuner i Västra Götaland. Teori om systemteorin och begrepp om kunskap, makt och handlingsutrymme användes för att fördjupa förståelsen för det insamlade materialet. En tematisk analys valdes för att analysera materialet. Resultatet visade att familjebehandlarnas kunskaper om NPF upplevdes bero på den enskildes intresse och erfarenheter av ämnet. Det framkom att familjebehandlarna inte hade fått någon formell utbildning om NPF varken under den akademiska utbildningen eller av arbetsgivaren. Resultatet visade även att det fanns motsägelser kring vilka kunskaper familjebehandlarna borde besitta och vad förebyggande arbete innebär. Familjebehandlarna beskrev att det preventiva familjearbetet påverkades av kunskaper om NPF, de beskrev att kunskapen om NPF bör vara specialiserad för att kunna arbeta preventivt. De beskrev samtidigt att det preventiva familjearbetet var oberoende av den enskilde familjebehandlarens kunskapsnivå eftersom de möter varje individ utifrån enskilda behov. Familjebehandlarnas uppfattningar om vad som tillhörde deras yrkesroll påverkade deras behov av att vilja ha specialiserade kunskaper. Slutsatsen var att det finns ett behov av preventivt arbete och kunskapsutveckling om NPF eftersom familjebehandlare möter en omfattande mängd av föräldrar vars barn har en NPF-diagnos. En kompetensutveckling skulle kunna medföra en stabilare kunskapsbas hos familjebehandlare, som dessutom skulle kunna leda till en utveckling av det preventiva familjearbetet inom socialtjänsten. En stabilare kunskapsbas skulle även kun, The purpose of the essay was to examine how family therapists in social services describe the knowledge prerequisites in their work regarding neurodevelopmental disorders (NDD), and to deepen the understanding of how this might be relevant for preventive work with parents whose children have an NDD diagnosis. The study was conducted through semi-structured interviews with six family therapists within social services in five smaller municipalities in Västra Götaland. Theory on systems theory and concepts of knowledge, power, and agency were employed to deepen the understanding of the collected material. A thematic analysis was chosen to analyze the material. The results showed that family therapists' knowledge of NDD was perceived to depend on the individual's interest and experiences in the subject. It emerged that family therapists had not received any formal training on NDD either during their academic education or from their employer. The results also showed contradictions regarding which knowledge family therapists should possess and what preventive work entails. Family therapists described that preventive work was influenced by knowledge of NDD, expressing that knowledge about NDD should be specialized to work preventively. They also described that preventive work was independent of the individual family therapist's level of knowledge because they meet each individual based on individual needs. Family therapists' perceptions of what belonged to the professional role influenced their need for specialized knowledge. The conclusion was that there is a need for preventive work and knowledge development regarding NDD, as family therapists encounter a substantial number of parents whose children have an NDD diagnosis. Competence development could lead to a more stable knowledge base among family therapists, which could also lead to the development of preventive work within social services. A more stable knowledge base could also contribute to better and more effectiv

Den här studien handlar om grundskolans interna samverkan kring elever med neuropsykiatriska funktionsnedsättningar (NPF). Syftet med studien var att belysa hur samverkan mellan olika professioner i grundskolan kan utvecklas för att skapa en tillgänglig lärmiljö för elever med NPF. De frågeställningar som besvaras är: Hur beskriver lärare sin samverkan med andra professioner i grundskolan när det gäller skolsituationen för elever med NPF? Vad behöver enligt lärarna utvecklas när det gäller samverkan kring elever med NPF? Studien utgick från verksamhetsteori som bidrog till att samverkan kunde studeras på ett djupare plan. Sex grundskollärare intervjuades med halvstrukturerade intervjuer. Med tematisk- och verksamhetsteoretisk analys på studiens empiri framkom att samverkan mellan lärare och skolans övriga professioner inte sker i den utsträckning som lärare önskar. Kunskapsmässiga svårigheter är det vanligaste motivet för samverkan mellan lärare och andra professioner i skolan, där stöd av elevers sociala svårigheter och skolans förebyggande arbete får stå tillbaka. Det som enligt lärarna behöver utvecklas är att rektorn blir delaktig i skolans specialpedagogiska processer; Skolors organisatoriska arbete kring elever med NPF behöver förtydligas, både gällande motivet för samverkan, professioners ansvarsområden och att skolor skapar forum och rutiner för skolans professioner att mötas kring elever med NPF., This study is about the primary school's internal collaboration around pupil with neurodevelopmental disorders (NDD). The aim of this study was to highlight how cooperation between different professions in primary school can be developed to create an accessible learning environment for students with NDD. The questions that the study sets out to answer is: How do teachers describe their collaboration with other professions in elementary school regarding the school situation for students with NDD? According to the teachers, what needs to be developed in terms of collaboration around students with NDD? The study was based on an activity theory, which contributed to the fact that cooperation could be studied on a deeper level. Six primary school teachers were interviewed using semi-structured interviews. With a thematic- and activity theory analysis of the study's empirical data, it emerged that collaboration between teachers and the school´s other professions does not take place to the extent that teachers wish. Knowledge-related difficulties are the most common motive for teachers´collaboration with other professions in the school, here support of students´ social difficulties and the school´s preventive work may take a back seat. According to the teachers, what needs to be developed is for the principal to be involved in the school´s special education processes. Schools´ organizational work around students with NDD needs to be clarified, both regarding the motive for collaboration, professions´ areas of responsibility and that schools create forums and routines for the school´s professions to meet around students with NDD.

Syftet med uppsatsen var att undersöka hur familjebehandlare i socialtjänsten beskriver de kunskapsmässiga förutsättningarna i arbetet avseende neuropsykiatrisk funktionsnedsättning [NPF] samt att fördjupa förståelsen för hur detta upplevs kunna få betydelse för ett preventivt arbete gentemot föräldrar vars barn har en NPF-diagnos. Studien genomfördes genom semistrukturerade intervjuer med sex familjebehandlare inom socialtjänsten i fem mindre kommuner i Västra Götaland. Teori om systemteorin och begrepp om kunskap, makt och handlingsutrymme användes för att fördjupa förståelsen för det insamlade materialet. En tematisk analys valdes för att analysera materialet. Resultatet visade att familjebehandlarnas kunskaper om NPF upplevdes bero på den enskildes intresse och erfarenheter av ämnet. Det framkom att familjebehandlarna inte hade fått någon formell utbildning om NPF varken under den akademiska utbildningen eller av arbetsgivaren. Resultatet visade även att det fanns motsägelser kring vilka kunskaper familjebehandlarna borde besitta och vad förebyggande arbete innebär. Familjebehandlarna beskrev att det preventiva familjearbetet påverkades av kunskaper om NPF, de beskrev att kunskapen om NPF bör vara specialiserad för att kunna arbeta preventivt. De beskrev samtidigt att det preventiva familjearbetet var oberoende av den enskilde familjebehandlarens kunskapsnivå eftersom de möter varje individ utifrån enskilda behov. Familjebehandlarnas uppfattningar om vad som tillhörde deras yrkesroll påverkade deras behov av att vilja ha specialiserade kunskaper. Slutsatsen var att det finns ett behov av preventivt arbete och kunskapsutveckling om NPF eftersom familjebehandlare möter en omfattande mängd av föräldrar vars barn har en NPF-diagnos. En kompetensutveckling skulle kunna medföra en stabilare kunskapsbas hos familjebehandlare, som dessutom skulle kunna leda till en utveckling av det preventiva familjearbetet inom socialtjänsten. En stabilare kunskapsbas skulle även kun, The purpose of the essay was to examine how family therapists in social services describe the knowledge prerequisites in their work regarding neurodevelopmental disorders (NDD), and to deepen the understanding of how this might be relevant for preventive work with parents whose children have an NDD diagnosis. The study was conducted through semi-structured interviews with six family therapists within social services in five smaller municipalities in Västra Götaland. Theory on systems theory and concepts of knowledge, power, and agency were employed to deepen the understanding of the collected material. A thematic analysis was chosen to analyze the material. The results showed that family therapists' knowledge of NDD was perceived to depend on the individual's interest and experiences in the subject. It emerged that family therapists had not received any formal training on NDD either during their academic education or from their employer. The results also showed contradictions regarding which knowledge family therapists should possess and what preventive work entails. Family therapists described that preventive work was influenced by knowledge of NDD, expressing that knowledge about NDD should be specialized to work preventively. They also described that preventive work was independent of the individual family therapist's level of knowledge because they meet each individual based on individual needs. Family therapists' perceptions of what belonged to the professional role influenced their need for specialized knowledge. The conclusion was that there is a need for preventive work and knowledge development regarding NDD, as family therapists encounter a substantial number of parents whose children have an NDD diagnosis. Competence development could lead to a more stable knowledge base among family therapists, which could also lead to the development of preventive work within social services. A more stable knowledge base could also contribute to better and more effectiv

Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.Methods: Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF-subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays.Results: Neurodevelopmental delay with intellectual disability, muscular hypotonia, and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare. Clinical presentation differed significantly, with LGD variants being predominantly inherited and associated with mildly reduced or normal cognitive development, whereas non -truncating variants were mostly de novo and presented with severe developmental delay. These distinct manifestations and non-truncating variant clustering in functional domains suggest different pathomechanisms. In vitro testing showed decreased protein expression for N-terminal missense variants similar to LGD.Conclusion: This study improved SMARCC2 variant classification and identified discernible SMARCC2-associated phenotypes for LGD and non-truncating variants, which were distinct from other BAFopathies. The pathomechanism of most non-truncating variants has yet to be investigated.(c) 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

The purpose of this study is to gain increased knowledge on how three special education teachers include students with neurodevelopmental disorders (NDD) in math lessons. Moreover, the study aims to provide a deeper understanding of the challenges and benefits of inclusive math education for NDD students. The study provides an overview of previous research on inclusion, inclusion in mathematics, and NDD. The investigation was conducted through semi-structured interviews with three special education teachers in math. The results of the study show that the special education teachers' view on inclusion aligns with the dilemma perspective, where students work with math borh in the classroom and in groups outside of it. Important factors for inclusive education for NDD students that are supported by research, include hands-on materials, structured teaching, adapted books, a permissive climate, personalized instruction, meaningful lessons and fostering a sense of context and belonging. The teachers in the study believe that the biggest challenges include difficulty keeping up with everything due to students' different needs and levels. They also mention challenges that arise over time, such as decreased student motivation and attendance. However, through observations in the regular classroom and their results, they also believe that students achieve higher levels of fulfillment and increased self-confidence in math, and, because of increased learning, they feel more included in the classroom.

Background: Different barriers may hinder children with developmental disabilities (DD) from having a voice in research and clinical interventions concerning fundamentally subjective phenomena, such as participation. It is not well-investigated if video communication tools have the potential to reduce these barriers. Aim: This study investigated the feasibility of administering a self-rating instrument measuring participation, Picture My Participation (PmP), via a video communication tool (Zoom), to children with DD. Materials and methods: PmP was administered to 17 children with DD (mean age 13 years). The pictorial representations of activities and response options in PmP were displayed in a shared PowerPoint presentation, enabling nonverbal responses with the annotate function in Zoom. Child and interviewer perceptions of the interview were measured through questionnaires developed for the purpose. Results: All the children completed the interview. Most PmP questions were answered, and no adverse events were registered. Technical issues could generally be solved. No special training or expensive equipment was needed for the interviews. Conclusion: Interviewer-guided self-ratings of participation and related constructs through video communication may be a feasible procedure to use with children with DD from age 11. Significance: Offering video communication may increase children’s chances to contribute subjective experiences in research and clinical practice.

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a h, CC BY 4.0Correspondence to: Reza MaroofianDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UKE-mail: R.Maroofian@ucl.ac.ukA.S. is funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – SA 4171/1-1. H.H. is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). S.E. is supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1’. This work was supported in part by the US National Institutes of Health R35 NS105078 and MDA#512848 to J.R.L., a jointly funded National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) grant to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542) and NHGRI Genomics Research to Elucidate Genetics of Rare (BCM-GREGoR U01 HG011758). D.P. is supported by Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation (ABF) and Muscle Study Group (MSG). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s Hospital Foundation. H.T. has been supported by the European Union’s Seventh Framework Program for research, technological development and demonstration under grant agreement no. 608473. H.S.D. is supported by the Cologne Clinician Scientist Program/Faculty of Medicine/University of Cologne and funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project No. 41354319

IntroductionFragile X syndrome (FXS) is a X-linked neurodevelopmental disorder (NDD). This study aims to investigate the incidence of FXS in Chinese children and analyze the comprehensive clinical characteristics of these FXS children.MethodsChildren diagnosed with idiopathic NDD were recruited between 2016 and 2021 from the department of Child Health Care, Children's Hospital of Fudan University. We combined tetraplet-primed PCR-capillary electrophoresis and whole exome sequencing (WES)/panel or array-based comparative genomic hybridization (array-CGH) to identify the size of the CGG repeats and the mutations or copy number variations (CNVs) in the genome and in FMR1. The clinical features of FXS children were analyzed according to pediatricians' recording, parental questionnaires, the results of examinations and follow-up.ResultsThe incidence of FXS in Chinese children with idiopathic NDD was 2.4% (42/1753) and in those with FXS, 2.38% had a deletion (1/42). Here, we present the clinical characteristics of 36 children with FXS. Overweight was observed in two boys. The average intelligence quotient (IQ)/development quotient (DQ) of all FXS patients was 48. The average ages of meaningful words and walking alone were 2 years and 10 months and 1 year and 7 months, respectively. The most frequent repetitive behavior was stimulated by hyperarousal to sensory stimulation. On social aspects, social withdrawal, social anxiety, and shyness accounted for 75%, 58%, and 56% of the total number of children, respectively. Approximately 60% of FXS children in this cohort were emotionally labile and prone to temper tantrums. Self-injury and aggression toward others could also be observed, at 19% and 28%, respectively. The most frequent behavioral problem was attention-deficit hyperactivity disorder (ADHD) seen in 64% and the most common facial features were a narrow and elongated face and large or prominent ears in 92% of patients.DiscussionScreening of FMR1 full mutation provides

Background: Different barriers may hinder children with developmental disabilities (DD) from having a voice in research and clinical interventions concerning fundamentally subjective phenomena, such as participation. It is not well-investigated if video communication tools have the potential to reduce these barriers. Aim: This study investigated the feasibility of administering a self-rating instrument measuring participation, Picture My Participation (PmP), via a video communication tool (Zoom), to children with DD. Materials and methods: PmP was administered to 17 children with DD (mean age 13 years). The pictorial representations of activities and response options in PmP were displayed in a shared PowerPoint presentation, enabling nonverbal responses with the annotate function in Zoom. Child and interviewer perceptions of the interview were measured through questionnaires developed for the purpose. Results: All the children completed the interview. Most PmP questions were answered, and no adverse events were registered. Technical issues could generally be solved. No special training or expensive equipment was needed for the interviews. Conclusion: Interviewer-guided self-ratings of participation and related constructs through video communication may be a feasible procedure to use with children with DD from age 11. Significance: Offering video communication may increase children’s chances to contribute subjective experiences in research and clinical practice.

Background: Different barriers may hinder children with developmental disabilities (DD) from having a voice in research and clinical interventions concerning fundamentally subjective phenomena, such as participation. It is not well-investigated if video communication tools have the potential to reduce these barriers. Aim: This study investigated the feasibility of administering a self-rating instrument measuring participation, Picture My Participation (PmP), via a video communication tool (Zoom), to children with DD. Materials and methods: PmP was administered to 17 children with DD (mean age 13 years). The pictorial representations of activities and response options in PmP were displayed in a shared PowerPoint presentation, enabling nonverbal responses with the annotate function in Zoom. Child and interviewer perceptions of the interview were measured through questionnaires developed for the purpose. Results: All the children completed the interview. Most PmP questions were answered, and no adverse events were registered. Technical issues could generally be solved. No special training or expensive equipment was needed for the interviews. Conclusion: Interviewer-guided self-ratings of participation and related constructs through video communication may be a feasible procedure to use with children with DD from age 11. Significance: Offering video communication may increase children’s chances to contribute subjective experiences in research and clinical practice.

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a h, CC BY 4.0Correspondence to: Reza MaroofianDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UKE-mail: R.Maroofian@ucl.ac.ukA.S. is funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – SA 4171/1-1. H.H. is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). S.E. is supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1’. This work was supported in part by the US National Institutes of Health R35 NS105078 and MDA#512848 to J.R.L., a jointly funded National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) grant to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542) and NHGRI Genomics Research to Elucidate Genetics of Rare (BCM-GREGoR U01 HG011758). D.P. is supported by Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation (ABF) and Muscle Study Group (MSG). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s Hospital Foundation. H.T. has been supported by the European Union’s Seventh Framework Program for research, technological development and demonstration under grant agreement no. 608473. H.S.D. is supported by the Cologne Clinician Scientist Program/Faculty of Medicine/University of Cologne and funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project No. 41354319

[This corrects the article DOI: 10.3389/fped.2023.1064104.].

Background: Different barriers may hinder children with developmental disabilities (DD) from having a voice in research and clinical interventions concerning fundamentally subjective phenomena, such as participation. It is not well-investigated if video communication tools have the potential to reduce these barriers. Aim: This study investigated the feasibility of administering a self-rating instrument measuring participation, Picture My Participation (PmP), via a video communication tool (Zoom), to children with DD. Materials and methods: PmP was administered to 17 children with DD (mean age 13 years). The pictorial representations of activities and response options in PmP were displayed in a shared PowerPoint presentation, enabling nonverbal responses with the annotate function in Zoom. Child and interviewer perceptions of the interview were measured through questionnaires developed for the purpose. Results: All the children completed the interview. Most PmP questions were answered, and no adverse events were registered. Technical issues could generally be solved. No special training or expensive equipment was needed for the interviews. Conclusion: Interviewer-guided self-ratings of participation and related constructs through video communication may be a feasible procedure to use with children with DD from age 11. Significance: Offering video communication may increase children’s chances to contribute subjective experiences in research and clinical practice.

The purpose of this study is to gain increased knowledge on how three special education teachers include students with neurodevelopmental disorders (NDD) in math lessons. Moreover, the study aims to provide a deeper understanding of the challenges and benefits of inclusive math education for NDD students. The study provides an overview of previous research on inclusion, inclusion in mathematics, and NDD. The investigation was conducted through semi-structured interviews with three special education teachers in math. The results of the study show that the special education teachers' view on inclusion aligns with the dilemma perspective, where students work with math borh in the classroom and in groups outside of it. Important factors for inclusive education for NDD students that are supported by research, include hands-on materials, structured teaching, adapted books, a permissive climate, personalized instruction, meaningful lessons and fostering a sense of context and belonging. The teachers in the study believe that the biggest challenges include difficulty keeping up with everything due to students' different needs and levels. They also mention challenges that arise over time, such as decreased student motivation and attendance. However, through observations in the regular classroom and their results, they also believe that students achieve higher levels of fulfillment and increased self-confidence in math, and, because of increased learning, they feel more included in the classroom.

BackgroundDifferent barriers may hinder children with developmental disabilities (DD) from having a voice in research and clinical interventions concerning fundamentally subjective phenomena, such as participation. It is not well-investigated if video communication tools have the potential to reduce these barriers. AimThis study investigated the feasibility of administering a self-rating instrument measuring participation, Picture My Participation (PmP), via a video communication tool (Zoom), to children with DD. Materials and methodsPmP was administered to 17 children with DD (mean age 13 years). The pictorial representations of activities and response options in PmP were displayed in a shared PowerPoint presentation, enabling nonverbal responses with the annotate function in Zoom. Child and interviewer perceptions of the interview were measured through questionnaires developed for the purpose. ResultsAll the children completed the interview. Most PmP questions were answered, and no adverse events were registered. Technical issues could generally be solved. No special training or expensive equipment was needed for the interviews. ConclusionInterviewer-guided self-ratings of participation and related constructs through video communication may be a feasible procedure to use with children with DD from age 11. SignificanceOffering video communication may increase children's chances to contribute subjective experiences in research and clinical practice.

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a h, CC BY 4.0Correspondence to: Reza MaroofianDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UKE-mail: R.Maroofian@ucl.ac.ukA.S. is funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – SA 4171/1-1. H.H. is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). S.E. is supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1’. This work was supported in part by the US National Institutes of Health R35 NS105078 and MDA#512848 to J.R.L., a jointly funded National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) grant to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542) and NHGRI Genomics Research to Elucidate Genetics of Rare (BCM-GREGoR U01 HG011758). D.P. is supported by Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation (ABF) and Muscle Study Group (MSG). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s Hospital Foundation. H.T. has been supported by the European Union’s Seventh Framework Program for research, technological development and demonstration under grant agreement no. 608473. H.S.D. is supported by the Cologne Clinician Scientist Program/Faculty of Medicine/University of Cologne and funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project No. 41354319

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a h, CC BY 4.0Correspondence to: Reza MaroofianDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UKE-mail: R.Maroofian@ucl.ac.ukA.S. is funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – SA 4171/1-1. H.H. is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). S.E. is supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1’. This work was supported in part by the US National Institutes of Health R35 NS105078 and MDA#512848 to J.R.L., a jointly funded National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) grant to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542) and NHGRI Genomics Research to Elucidate Genetics of Rare (BCM-GREGoR U01 HG011758). D.P. is supported by Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation (ABF) and Muscle Study Group (MSG). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s Hospital Foundation. H.T. has been supported by the European Union’s Seventh Framework Program for research, technological development and demonstration under grant agreement no. 608473. H.S.D. is supported by the Cologne Clinician Scientist Program/Faculty of Medicine/University of Cologne and funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project No. 41354319

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a h, CC BY 4.0Correspondence to: Reza MaroofianDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UKE-mail: R.Maroofian@ucl.ac.ukA.S. is funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – SA 4171/1-1. H.H. is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). S.E. is supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1’. This work was supported in part by the US National Institutes of Health R35 NS105078 and MDA#512848 to J.R.L., a jointly funded National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) grant to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542) and NHGRI Genomics Research to Elucidate Genetics of Rare (BCM-GREGoR U01 HG011758). D.P. is supported by Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation (ABF) and Muscle Study Group (MSG). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s Hospital Foundation. H.T. has been supported by the European Union’s Seventh Framework Program for research, technological development and demonstration under grant agreement no. 608473. H.S.D. is supported by the Cologne Clinician Scientist Program/Faculty of Medicine/University of Cologne and funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project No. 41354319

Background: Different barriers may hinder children with developmental disabilities (DD) from having a voice in research and clinical interventions concerning fundamentally subjective phenomena, such as participation. It is not well-investigated if video communication tools have the potential to reduce these barriers. Aim: This study investigated the feasibility of administering a self-rating instrument measuring participation, Picture My Participation (PmP), via a video communication tool (Zoom), to children with DD. Materials and methods: PmP was administered to 17 children with DD (mean age 13 years). The pictorial representations of activities and response options in PmP were displayed in a shared PowerPoint presentation, enabling nonverbal responses with the annotate function in Zoom. Child and interviewer perceptions of the interview were measured through questionnaires developed for the purpose. Results: All the children completed the interview. Most PmP questions were answered, and no adverse events were registered. Technical issues could generally be solved. No special training or expensive equipment was needed for the interviews. Conclusion: Interviewer-guided self-ratings of participation and related constructs through video communication may be a feasible procedure to use with children with DD from age 11. Significance: Offering video communication may increase children’s chances to contribute subjective experiences in research and clinical practice.

Background Different barriers may hinder children with developmental disabilities (DD) from having a voice in research and clinical interventions concerning fundamentally subjective phenomena, such as participation. It is not well-investigated if video communication tools have the potential to reduce these barriers. AimThis study investigated the feasibility of administering a self-rating instrument measuring participation, Picture My Participation (PmP), via a video communication tool (Zoom), to children with DD. Materials and methodsPmP was administered to 17 children with DD (mean age 13 years). The pictorial representations of activities and response options in PmP were displayed in a shared PowerPoint presentation, enabling nonverbal responses with the annotate function in Zoom. Child and interviewer perceptions of the interview were measured through questionnaires developed for the purpose. ResultsAll the children completed the interview. Most PmP questions were answered, and no adverse events were registered. Technical issues could generally be solved. No special training or expensive equipment was needed for the interviews. ConclusionInterviewer-guided self-ratings of participation and related constructs through video communication may be a feasible procedure to use with children with DD from age 11. SignificanceOffering video communication may increase children's chances to contribute subjective experiences in research and clinical practice.

El present treball tracta d'aproximar-se a la concepció que es tenia de la menstruació a l'Antic Testament a partir d'una selecció de passatges i el recolzament de les fonts secundàries adients. Per fer-ho, s'ha establert un ordre que pugui filar de manera coherent l'estudi, començant per la terminologia hebrea que ajudi a familiaritzar-se amb la llengua. A continuació, s'explora l'esfera de la puresa i impuresa i la contaminació per tal d'ubicar-hi la menstruació. Es continua detallant les conseqüències de mantenir relacions sexuals amb una dona menstruant i la relació amb altres fluids vaginals i es conclou parlant sobre la manera en què es podia revertir aquesta impuresa. Finalment, es dedica tot un apartat al concepte de ndd, "dona menstruant"., The following research seeks to approach the conception of menstruation in the Old Testament through a selection of fragments and the support of appropriate secondary sources. To do so, an order has been established to structure the study coherently, starting with Hebrew terminology to help becoming acquainted with the language. It goes on to explore the sphere of purity and impurity and its pollution to unravel the space that menstruation had in it. Then it details the consequences of engaging in sexual activities with a menstruating woman and the relation with other vaginal fluids to conclude discussing the way in which this impurity could be reversed. Finally, an entire section is dedicated to the concept of ndd, "menstruating woman".

Trygga relationer mellan pedagog och elev är av stor betydelse då det ökar elevens skolresultat och motivation inför skolan. Elever med neuropsykiatriska funktionsnedsättningar (NPF) står inför många utmaningar i skolan och det är inte ovanligt att elevgruppen har hög frånvaro. Trygga relationer skulle kunna fungera som en skyddsfaktor för dessa barn och bidra till en ökad närvaro. Syftet med uppsatsen var att undersöka hur trygga respektive otrygga relationer kommer till uttryck i skola och att undersöka om det finns andra tillvägagångssätt i relationsskapandet till elever med NPF. För att besvara studiens frågeställningar har det genomförts semistrukturerade intervjuer med pedagoger som arbetar relationsskapande i skolan. Empirin har analyserats med hjälp av en tematisk analys. Resultatet visade att relationsskapande är av stor betydelse för en lyckad skolgång på såväl ett akademiskt som socialt plan. Otrygga relationer leder till att pedagogen har svårt att nå fram till eleven. Trygga relationer bidrar till att pedagogen med hjälp av små signaler kan korrigera oönskade beteende. Elever med NPF behöver ibland mer tid för att bygga tillitsfulla relationer till pedagoger. Resultatet visade också att relationen är extra viktig för dessa elever eftersom de redan står inför många utmaningar i skolan. För att pedagogen ska kunna göra anpassningar utifrån elevens behov blir relationen än viktigare., Secure relationships between educator and student are of great importance as it increases the student's school results and motivation towards school. Students with neurodevelopmental disorder (NDD) face many challenges in school and it is not uncommon for this group of students to have high absence. Secure relationships could act as a factor of protection for these children and contribute to an increased presence. The purpose of the study was to investigate how secure and insecure relationships are expressed in school and to investigate whether there are any other approaches to relationship-building towards students with neurodevelopmental disorder. To answer the purpose of the study, semi-structured interviews have been conducted with educators working relationship-building in schools. The empirical experience of the study has subsequently been analyzed using a thematic analysis. The results showed that relationship-building is of great importance for a successful time in school on both an academic and social level. Precarious relationships lead to the teacher having difficulty reaching the student. Secure relationships help educators to be able to correct unwanted behavior with the help of small signals. Students with NDD sometimes need more time to build trusting relationships with educators. The results also showed that the relationship is extra important for these students because they already face many challenges in school. In order for the educator to be able to make adjustments based on the students needs, the relationship becomes even more important.

Neurodevelopmental disorders (NDD) is a collective name for diagnoses such as ADHD, ASD/Autism, Tourette’s syndrome and language disorders. A child with these diagnoses has different deficits that can be divided into the following problem areas; Social interaction, Learning difficulties, Memory and motor skills, and Concentration difficulties. In order for these children to cope with their everyday lives, they need support in the form of assistive aid products or human care. This investigative work has been done in collaboration with Komikapp AB and focused on developing a product within the assistive technology industry. The goal was to design an assistive aid for children with NDD diagnoses that offers increased school performance. The work was planned through the design processes Double Diamond process and Design Thinking process and is placed within the framework of Eco Design. The project was initiated with literature studies on the different diagnoses together with what products were available on the current market. From the background research, conclusions could be drawn that the products were often considered to be large and bulky, stationary, non-discreet and had a childish appearance. It could also be stated that appreciated products were fidget toys that stimulate the user through tactile senses, such as stress balls. In addition, the product aid market for older children, those in their adolescence, was small. The decision was made to narrow down the target group for children in the higher stages of Swedish comprehensive school and that the problem area for the work should be focused on Concentration difficulties. The investigation was followed by a questionnaire sent to people who work or have worked within the teaching profession. Moreover, in-depth interviews were conducted with a principal at an NDD-adapted higher-stage school, an occupational therapist at Stockholm’s ADHD centre and five teaching assistants. After all the information was gathered, b, Neuropsykiatriska funktionsnedsättningar (NPF) är ett samlingsnamn för diagnoser som ADHD, AST/Autism, Tourettes syndrom och språksvårigheter. Ett barn med dessa diagnoser har olika svårigheter som kan delas in efter följande problemområden; Social interaktion, Inlärningssvårigheter, Minne och motorik samt Koncentrationssvårigheter. För att dessa barn ska klara av sin vardag behöver de stöd i form av hjälpmedelsprodukter eller mänsklig vård. Detta utredningsarbete har gjorts i samarbete med Komikapp AB och fokuserats på framtagning av en produkt inom hjälpmedelsbranschen. Målet var att designa ett hjälpmedel för barn med NPF diagnoser som erbjuder en ökad prestation i skolan. Arbetet projekterades genom designprocesserna Double Diamond processen samt Design Thinking processen och placerar sig inom ramen för Eco Design. Projektet inleddes med litteraturundersökningar för de olika diagnoserna samt vilka produkter som finns för dessa på marknaden idag. Från bakgrundsinsamlingen kunde slutsatser dras om att produkterna ansågs ofta vara stora och klumpiga, stationära, ha ett barnsligt utseende och icke-diskreta. Det kunde också konstateras att produkter som uppskattades var pillerillprodukter som stimulerar användaren genom taktila sinnen som exempelvis stressbollar. Dessutom var utbudet för äldre barn, tonåringar, litet. Beslutet togs att målgruppen skulle avsmalnas till barn i högstadieåldern och att problemområdet för arbetet ska fokuseras på Koncentrationssvårigheter. Utredningen fortsatte genom utskick av frågeformulär till personer som jobbar eller tidigare har jobbat inom läraryrket samt djupa intervjuer med en rektor på en NPF anpassad högstadieskola, en terapeut på Stockholms ADHD-center och 5 lärarassistenter. Efter all informationsinsamling användes brainstorm metoder för att bryta ner det valda problemområdet, Koncentrationssvårigheter. En mindre subgrupp under problemområdet observerades och antogs gynna arbetet utifrån ett kursmål-perspektiv. Det nya nischa

Adolescence is a time of change where maturational milestones lead to the prioritization of peerinput, and the social context becomes crucial in its influence of those milestones. Adolescents socialcontext requires adapting to complex social norms through self-regulation, a process which adolescents having neurodevelopmental disorders struggle with, bounding them to a certain incompetencein dealing with the peer group and friendships. In a time where interconnection becomes crucial inconforming the self-concept, it makes sense struggles in this area would influence the experience ofmental health. In this crossectional quantitative study adolescents with NDDs friendship experiencein class and its relation to well-being is analyzed using the data from the prospective longitudinalsurvey LoRDIA project. Variables such as reciprocity and rejection were created from peer nominations and used alongside items on perceived support and the MHC-Mental health continuumscale rating of flourishing. Descriptives, Chi-squares and logistic regression were conducted usingSPSS. Results show an association between well-being and the friendship experience but not between well-being and the presence of an NDD. Adolescents with an NDD experience less reciprocity, more rejection and lower perceived support in higher frequency than their peers. Discussion isguided by the family of Participation Related Constructs (fPRC) and the Two continuum modelperspective of well-being. Methodological limitations and future interventions based on the discussion are exposed.

Neurodevelopmental disorders (NDD) is a collective name for diagnoses such as ADHD, ASD/Autism, Tourette’s syndrome and language disorders. A child with these diagnoses has different deficits that can be divided into the following problem areas; Social interaction, Learning difficulties, Memory and motor skills, and Concentration difficulties. In order for these children to cope with their everyday lives, they need support in the form of assistive aid products or human care. This investigative work has been done in collaboration with Komikapp AB and focused on developing a product within the assistive technology industry. The goal was to design an assistive aid for children with NDD diagnoses that offers increased school performance. The work was planned through the design processes Double Diamond process and Design Thinking process and is placed within the framework of Eco Design. The project was initiated with literature studies on the different diagnoses together with what products were available on the current market. From the background research, conclusions could be drawn that the products were often considered to be large and bulky, stationary, non-discreet and had a childish appearance. It could also be stated that appreciated products were fidget toys that stimulate the user through tactile senses, such as stress balls. In addition, the product aid market for older children, those in their adolescence, was small. The decision was made to narrow down the target group for children in the higher stages of Swedish comprehensive school and that the problem area for the work should be focused on Concentration difficulties. The investigation was followed by a questionnaire sent to people who work or have worked within the teaching profession. Moreover, in-depth interviews were conducted with a principal at an NDD-adapted higher-stage school, an occupational therapist at Stockholm’s ADHD centre and five teaching assistants. After all the information was gathered, b, Neuropsykiatriska funktionsnedsättningar (NPF) är ett samlingsnamn för diagnoser som ADHD, AST/Autism, Tourettes syndrom och språksvårigheter. Ett barn med dessa diagnoser har olika svårigheter som kan delas in efter följande problemområden; Social interaktion, Inlärningssvårigheter, Minne och motorik samt Koncentrationssvårigheter. För att dessa barn ska klara av sin vardag behöver de stöd i form av hjälpmedelsprodukter eller mänsklig vård. Detta utredningsarbete har gjorts i samarbete med Komikapp AB och fokuserats på framtagning av en produkt inom hjälpmedelsbranschen. Målet var att designa ett hjälpmedel för barn med NPF diagnoser som erbjuder en ökad prestation i skolan. Arbetet projekterades genom designprocesserna Double Diamond processen samt Design Thinking processen och placerar sig inom ramen för Eco Design. Projektet inleddes med litteraturundersökningar för de olika diagnoserna samt vilka produkter som finns för dessa på marknaden idag. Från bakgrundsinsamlingen kunde slutsatser dras om att produkterna ansågs ofta vara stora och klumpiga, stationära, ha ett barnsligt utseende och icke-diskreta. Det kunde också konstateras att produkter som uppskattades var pillerillprodukter som stimulerar användaren genom taktila sinnen som exempelvis stressbollar. Dessutom var utbudet för äldre barn, tonåringar, litet. Beslutet togs att målgruppen skulle avsmalnas till barn i högstadieåldern och att problemområdet för arbetet ska fokuseras på Koncentrationssvårigheter. Utredningen fortsatte genom utskick av frågeformulär till personer som jobbar eller tidigare har jobbat inom läraryrket samt djupa intervjuer med en rektor på en NPF anpassad högstadieskola, en terapeut på Stockholms ADHD-center och 5 lärarassistenter. Efter all informationsinsamling användes brainstorm metoder för att bryta ner det valda problemområdet, Koncentrationssvårigheter. En mindre subgrupp under problemområdet observerades och antogs gynna arbetet utifrån ett kursmål-perspektiv. Det nya nischa

Adolescence is a time of change where maturational milestones lead to the prioritization of peerinput, and the social context becomes crucial in its influence of those milestones. Adolescents socialcontext requires adapting to complex social norms through self-regulation, a process which adolescents having neurodevelopmental disorders struggle with, bounding them to a certain incompetencein dealing with the peer group and friendships. In a time where interconnection becomes crucial inconforming the self-concept, it makes sense struggles in this area would influence the experience ofmental health. In this crossectional quantitative study adolescents with NDDs friendship experiencein class and its relation to well-being is analyzed using the data from the prospective longitudinalsurvey LoRDIA project. Variables such as reciprocity and rejection were created from peer nominations and used alongside items on perceived support and the MHC-Mental health continuumscale rating of flourishing. Descriptives, Chi-squares and logistic regression were conducted usingSPSS. Results show an association between well-being and the friendship experience but not between well-being and the presence of an NDD. Adolescents with an NDD experience less reciprocity, more rejection and lower perceived support in higher frequency than their peers. Discussion isguided by the family of Participation Related Constructs (fPRC) and the Two continuum modelperspective of well-being. Methodological limitations and future interventions based on the discussion are exposed.

Trygga relationer mellan pedagog och elev är av stor betydelse då det ökar elevens skolresultat och motivation inför skolan. Elever med neuropsykiatriska funktionsnedsättningar (NPF) står inför många utmaningar i skolan och det är inte ovanligt att elevgruppen har hög frånvaro. Trygga relationer skulle kunna fungera som en skyddsfaktor för dessa barn och bidra till en ökad närvaro. Syftet med uppsatsen var att undersöka hur trygga respektive otrygga relationer kommer till uttryck i skola och att undersöka om det finns andra tillvägagångssätt i relationsskapandet till elever med NPF. För att besvara studiens frågeställningar har det genomförts semistrukturerade intervjuer med pedagoger som arbetar relationsskapande i skolan. Empirin har analyserats med hjälp av en tematisk analys. Resultatet visade att relationsskapande är av stor betydelse för en lyckad skolgång på såväl ett akademiskt som socialt plan. Otrygga relationer leder till att pedagogen har svårt att nå fram till eleven. Trygga relationer bidrar till att pedagogen med hjälp av små signaler kan korrigera oönskade beteende. Elever med NPF behöver ibland mer tid för att bygga tillitsfulla relationer till pedagoger. Resultatet visade också att relationen är extra viktig för dessa elever eftersom de redan står inför många utmaningar i skolan. För att pedagogen ska kunna göra anpassningar utifrån elevens behov blir relationen än viktigare., Secure relationships between educator and student are of great importance as it increases the student's school results and motivation towards school. Students with neurodevelopmental disorder (NDD) face many challenges in school and it is not uncommon for this group of students to have high absence. Secure relationships could act as a factor of protection for these children and contribute to an increased presence. The purpose of the study was to investigate how secure and insecure relationships are expressed in school and to investigate whether there are any other approaches to relationship-building towards students with neurodevelopmental disorder. To answer the purpose of the study, semi-structured interviews have been conducted with educators working relationship-building in schools. The empirical experience of the study has subsequently been analyzed using a thematic analysis. The results showed that relationship-building is of great importance for a successful time in school on both an academic and social level. Precarious relationships lead to the teacher having difficulty reaching the student. Secure relationships help educators to be able to correct unwanted behavior with the help of small signals. Students with NDD sometimes need more time to build trusting relationships with educators. The results also showed that the relationship is extra important for these students because they already face many challenges in school. In order for the educator to be able to make adjustments based on the students needs, the relationship becomes even more important.

The present study aimed to compare adolescents (14-15 years old) having self-reported neurodevelopmental disorders classified as flourishing with those adolescents classified as non- flourishing concerning rated mental health problems and adolescent perceptions of adolescent disclosure and parental control. The present study used a cross-sectional design based on a secondary analysis of data collected in the LoRDIA research program. Adolescents having self-reported NDDs in wave 3 were included (n=198). Adolescents rated their mental health using the Mental Health Continuum – Short Form, after which researchers classified them as flourishing, moderate, or languishing. Behavior and emotional symptoms were rated using the conduct problems subscale and emotional symptoms subscale of the self-reported version of the Strength and Difficulties Questionnaire. Adolescents rated adolescent disclosure and parental control using the adolescent disclosure scale and parental control scale. Independent Samples t-Tests, Mann-Whitney U test, and multiple regressions were performed to analyze data. Findings illustrated that adolescents having self-reported NDDs classified as flourishing report less conduct problems, lower adolescent disclosure, and same levels of parental control compared to those adolescents classified as non-flourishing. Emotional problems seem to be positively related to adolescent disclosure within family interaction patterns, while conduct problems appear to be negatively related to parental control. However, parenting style may be crucial in having few or many conduct- and emotional problems. Thus, adolescent disclosure plays a prominent role in relation to adolescents’ mental health, mental health problems, and parent-adolescent interactions, while parental control plays a prominent role in relation to adolescents’ mental health problems and parent-adolescent interactions.

The present study aimed to compare adolescents (14-15 years old) having self-reported neurodevelopmental disorders classified as flourishing with those adolescents classified as non- flourishing concerning rated mental health problems and adolescent perceptions of adolescent disclosure and parental control. The present study used a cross-sectional design based on a secondary analysis of data collected in the LoRDIA research program. Adolescents having self-reported NDDs in wave 3 were included (n=198). Adolescents rated their mental health using the Mental Health Continuum – Short Form, after which researchers classified them as flourishing, moderate, or languishing. Behavior and emotional symptoms were rated using the conduct problems subscale and emotional symptoms subscale of the self-reported version of the Strength and Difficulties Questionnaire. Adolescents rated adolescent disclosure and parental control using the adolescent disclosure scale and parental control scale. Independent Samples t-Tests, Mann-Whitney U test, and multiple regressions were performed to analyze data. Findings illustrated that adolescents having self-reported NDDs classified as flourishing report less conduct problems, lower adolescent disclosure, and same levels of parental control compared to those adolescents classified as non-flourishing. Emotional problems seem to be positively related to adolescent disclosure within family interaction patterns, while conduct problems appear to be negatively related to parental control. However, parenting style may be crucial in having few or many conduct- and emotional problems. Thus, adolescent disclosure plays a prominent role in relation to adolescents’ mental health, mental health problems, and parent-adolescent interactions, while parental control plays a prominent role in relation to adolescents’ mental health problems and parent-adolescent interactions.

Swedish legislation states that a school is required to make the necessary adjustments to include all children, regardless of circumstances or disabilities. However there are no clear guidelines as to how these adjustments should be carried out in the physical environment when it comes to cognitive disabilities such as ADHD, Autism Spectrum Disorder or Language Disorders. This thesis projects aims to design a school that takes the needs of these children into account, with the belief that this will, in the end, benefit all children, and help them succeed in school., Svensk lagstiftning säger att skolan förväntas göra de anpassningar som är nödvändiga för att undervisningen skall inkludera alla barn, oavsett svårigheter eller funktionshinder. Det finns dock inga klara riktlinjer för hur dessa anpassningar skall göras i den fysiska miljön när det gäller kognitiva funktionshinder som ADHD, Autismspektrum eller språkstörningar mm. Detta exjobb syftar till att formge en skola som anpassar sig till dessa barn, med utgångspunkten att detta i slutändan kan gagna alla barn, och hjälpa dem lyckas i skolan.

Swedish legislation states that a school is required to make the necessary adjustments to include all children, regardless of circumstances or disabilities. However there are no clear guidelines as to how these adjustments should be carried out in the physical environment when it comes to cognitive disabilities such as ADHD, Autism Spectrum Disorder or Language Disorders. This thesis projects aims to design a school that takes the needs of these children into account, with the belief that this will, in the end, benefit all children, and help them succeed in school., Svensk lagstiftning säger att skolan förväntas göra de anpassningar som är nödvändiga för att undervisningen skall inkludera alla barn, oavsett svårigheter eller funktionshinder. Det finns dock inga klara riktlinjer för hur dessa anpassningar skall göras i den fysiska miljön när det gäller kognitiva funktionshinder som ADHD, Autismspektrum eller språkstörningar mm. Detta exjobb syftar till att formge en skola som anpassar sig till dessa barn, med utgångspunkten att detta i slutändan kan gagna alla barn, och hjälpa dem lyckas i skolan.

Diapause is endocrine mediated dormancy and the preparatory stages are fourth and fifth instar lan/ae of tasar silkworm, Antheraea mylitta Drury. Different haemolymph biochemical constituents like total protein, free amino acids, trehalose, glycerol and glycogen were estimated in fourth instar lan/ae of Daba trivoltine ecorace of tropical tasar silkworm so as to differentiate between non-diapause destined (NDD- the first and second crops) and diapause destined (DD- third crop) generations and also to relate them as preparatory for undergoing diapause. There was significant difference in the presence of haemolymph glycogen in female larvae (1.9361+0.9605mg/ml) than male larvae (1.0859±0.5393) in TV third crop. No significant different was observed in remaining constituents. The concentration of trehalose was significantly higher in female lan/ae (0.9501 ±0.3784 mg/ml) than male lan/ae (0.3811±0.2420) in TV second crop. A comparison made between the female and male lan/ae of second crop shows the higher level presence of amino acids and proteins in male larvae. Rest of the constituents was higher in female larvae than male in second crop. During third crop, except for total free amino acids all other biochemical constituents were higher in male lan/ae and the difference was observed to be significant in the concentration of glycerol and amino acids A comparison between the non-diapause destined (2"" crop) and diapause destined (3"^ crop) generations indicated that the diapause destined larvae has significantly higher level of amino acids trehalose (6.5873 + 3.2437 mg/ml in male, 8.1217 ± 3.0710 mg/ml in female) and glycerol (in female). However, a comparison between NDD first crop and third crop indicated that all the haemolymph constituents were significantly higher in diapause destined fourth instar lan/ae, like amino acids protein (11.3999 ± 2.5290mg/ml in male, 11.3264 ± 2.5672mg/ml in female), trehalose glycogen and glycerol. The findings indicate that fourth ins

The New Nordic Diet (NND) was designed by gastronomic, nutritional and environmental specialists to be a palatable, healthy and sus-tainable diet containing 30-40% less meat than the Average Danish Diet (ADD), ≥75% organics, and more locally grown wholegrain products, nuts, fruit and vegetables. In this study, the NND was based on economic modelling to represent a “realistic NND bought by Danish consumers”. The objective was to investigate whether the ADD-to-NND diet-shift has environmental consequences that outweigh the increased consumer cost of the diet-shift. The diet-shift reduced the three most important environmental impacts by 16-22%, mainly caused by reduced meat content. The surcharge to consumers of the ADD-to-NND diet-shift was €216/capita/year. In monetary terms, the savings related to the environmental impact of the diet-shift were €151/capita/year. 70% of the increased consumer cost of the ADD-to-NND diet-shift was countered by the reduced socioeconomic advantage associated with the reduced environmental impact of the NND.