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A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone’s complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She was found to have bilateral megaureters, left hydronephrosis and asplenia. She was on lifelong prophylactic antibiotics and extra vaccines. She had two episodes of pseudo-obstruction of the small bowel, but barium follow-through was normal. She also had a large bowel obstruction and work-up for Hirschsprung disease confirmed the diagnosis. It was noticed that she had developmental delay and hypotonia, together with subtle dysmorphism. She also had failure to thrive and difficulty feeding. Exome sequencing revealed a diagnosis of Mowat-Wilson syndrome (MWS). This case shows a previously undescribed association of Shone’s complex, a complex left-sided obstructive heart defect, and MWS. It also highlights the usefulness of trio-exome sequencing in detecting such rare mutations.

Background: Studies on cognition in children with Down Syndrome (Trisomy 21) have described poor performance manipulating numbers. Elisabetta Monari's (2002) research suggest that considering mathematics as a universe of exploration beyond written arithmetic can offer them an opportunity for “human flourishing” (Su 2020). Geometry offers a suitable starting point. Objective: Exploring the use of geometrical activities for introducing children with T21 to integer and rational numbers. Design: A series of 7 workshops were designed to convey arithmetic concepts (counting, comparing and measuring) through plane geometry activities. Setting and Participants: Seven children aged 9 to 13, who had already completed a 3-year work on geometry, participated in the workshops held at the venue of the Spanish association Sesdown in Zaragoza, in leisure time. Data collection and analysis: Raw data consisted of 1) written reflections of lived experience (Van Manen 1990) by all adults participating in the experiment, following a shared protocol observation guide; 2) photographs; and 3) edited short videos. Results: Understanding of counting, cardinality, multiplication, measure and simple fractions was enhanced by previous geometrical conceptions, which came to the forefront and were reinforced. Moreover, activities enhanced speech. Cheerful engagement and increased awareness was also observed. Conclusions: The integration of arithmetic and geometry helps children with T21 to enter the mathematical world with understanding and pleasure. Primary school mathematics focuses on written arithmetic, but geometry is hidden in many educational aids and models. Explicit geometrical work can help inclusion of all children in mathematics school lessons.

Penelitian pengembangan ini menghasilkan sebuah media cetak berupa Buku Ajar Subtema Ayahku untuk Peserta Didik Kelas 2 Tunagrahita SLB Negeri 3 Jakarta. Pengembangan buku ajar cetak ini mengacu pada model pengembangan produk yaitu Model Rowntree. Model ini membagi tahapan pengembangan dalam tiga tahapan, tahap perencanaan, tahapan persiapan penulisan, dan tahap penulisan dan penyuntingan. Langkah-langkah tersebut dilakukan untuk mengembangkan produk yang sesuai untuk pembelajaran. Penelitian ini menggunakan evaluasi formatif dengan expert review yang dilakukan oleh 1 ahli materi, 1 ahli media, 1 ahli Tunagrahita dan one to one evaluation dengan peserta didik kelas 2 Tunagrahita SLB Negeri 3 Jakarta dengan jumlah 3 orang. Penilaian review bertujuan untuk memperbaiki buku ajar cetak yang telah dikembangkan agar kualitas buku ajar lebih baik lagi. Hasil expert review menunjukkan diperlukannya sedikit perbaikan dari segi desain dan isi materi, sedangkan dari one to one evaluation peserta didik menilai bahwa buku ajar cetak sudah bagus dan akan senang jika digunakan untuk proses pembelajaran. Berdasarkan hasil pengembangan menunjukkan bahwa buku ajar cetak sudah layak dijadikan sumber belajar untuk memfasilitasi peserta didik kelas 2 Tunagrahita di SLB Negeri 3 Jakarta.

Substantial efforts have been dedicated to understanding, assessing, and managing suicide risk in youth broadly. However, little attention has been focused specifically on autistic youth and youth with intellectual disability. Because emergency departments are an essential point of suicide-related care, we used the National Emergency Department Sample databases to explore differences in prevalence of U.S. emergency department visits with a suicidal ideation or intentional self-inflicted injury ICD-9 diagnostic code by autistic youth, youth with intellectual disability, and youth without these diagnoses (i.e. the comparison group). Emergency department visits with a suicidal ideation or intentional self-inflicted injury diagnosis were more prevalent in autistic youth (5.1%) and youth with intellectual disability (6.6%) than in the comparison group (1.2%). Similar results were found when examining visits with a suicidal ideation diagnosis and with an intentional self-inflicted injury diagnosis separately. Prevalence of these emergency department visits increased more from 2006 to 2014 in autistic youth and in youth with intellectual disability than in the comparison group and were correlated with common and distinct sociodemographic and clinical factors across groups. Results suggest autistic youth and youth with intellectual disability may be uniquely vulnerable to suicide risk, highlighting the urgency of addressing suicidality and self-harm in these groups, particularly within emergency department settings. Lay abstract Youth suicide is a major problem in the United States and globally, but little is known about suicide risk in autistic youth and youth with intellectual disability specifically. Using data from the National Emergency Department Sample, which is the largest database of emergency department visits in the United States, we found that emergency department visits with a suicidal ideation or intentional self-inflicted injury diagnosis were more common in autistic youth and youth with intellectual disability than in youth without these diagnoses (i.e. the comparison group). This was true when examining both suicidal ideation diagnoses and intentional self-inflicted injury diagnoses at emergency department visits. In addition, the number of emergency department visits with a suicidal ideation or intentional self-inflicted injury diagnosis increased more from 2006 to 2014 in autistic youth and youth with intellectual disability compared with the comparison group. We also found both similarities and differences when examining factors, such as age, sex, and co-occurring mental health conditions, related to emergency department visits with a suicidal ideation or intentional self-inflicted injury diagnosis across groups that may be helpful for understanding suicide risk. It is urgent that we improve our understanding, assessment, and treatment of suicidality and self-harm in these groups through more research and clinical efforts.

The tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectual disability and distinctive features including microcephaly was admitted. She was diagnosed with epilepsy at 2.5 years old. At 3.6 years of age, severe short stature related to growth hormone deficiency was detected. She had an incidental diagnosis of diabetes at age 11.4 years that was negative for diabetes antibodies with persistent C-peptide level and treated with metformin. Spontaneous puberty did not begin until 15.7 years of age and she was found to have primary ovarian failure. A homozygous p.Arg127* mutation in TRMT10A was detected. In addition to the typical clinical features that characterize TRMT10A syndrome we observed in our patient an unusual form of impaired glucose metabolism that was presented in early childhood with hypoglycemia followed by diabetes in late childhood. Growth hormone deficiency and primary ovarian failure may also be additional findings of this syndrome. Patients with slow onset diabetes that are negative for auto-antibodies and have extra-pancreatic features should be tested for all known subtypes monogenic diabetes.

Background. It appears that students with intellectual disability (ID) are more frequently absent from schoolcompared with students without ID. The objective of the current study was to estimate the frequency ofabsence among students with ID and the reasons for absence. Potential reasons included the attendanceproblems referred to as school refusal, where absence is related to emotional distress; truancy, whereabsence is concealed from parents; school exclusion, where absence is instigated by the school; and school withdrawal, where absence is initiated by parents. Methods. Study participants were 629 parents (84.6% mothers) of Australian school students (Mage = 11.18 years; 1.8% Aboriginal and/or TorresStrait Islander) with an ID. Participants completed a questionnaire battery that included the SchoolNon-Attendance ChecKlist via which parents indicated the reason their child was absent for each day orhalf-day absence their child had over the past 20 school days. The absence data presented to parents had been retrieved from school records. Results. Across all students, absence occurred on 7.9% of the past 20 school days. In terms of school attendance problems as defined in existing literature, school withdrawal accounted for 11.1% of absences and school refusal for 5.3% of absences. Students were also absent for other reasons, most commonly illness (32.0%) and appointments (24.2%). Of students with more than one absence (n = 217; 34.5%), about half were absent for more than one reason. Students attending mainstream schools had lower attendance than those attending special schools. Conclusions Students with ID were absent for a range of reasons and often for multiple reasons. There were elevated rates of school withdrawal and school refusal. Understanding the reasons for absenteeism can inform targeted prevention and intervention supports.

Caregivers of people with intellectual disabilities may feel overburdened in their work and experience negative psychological consequences. The purpose of this instrumental study was to determine the evidence of internal structure and reliability of the Zarit Caregiver Burden Interview scale. A total of 398 family caregivers, including women and men, participated (M = 47.33, SD = 10.44). The structure of the scale was evaluated by factor analysis and the McDonald Omega coefficient was used to estimate reliability. Sixteen models of the scale were tested, differing in number of items and factor structures. A model of 15 items and 4 dimensions (overload, competence, social relationship, and interpersonal relationship) obtained acceptable fit (χ2 = 184.72; p < 0.001; CFI = 0.95; TLI = 0.94; RMSEA = 0.055; SRMR = 0.05) and reliability coefficients above 0.70 in their dimensions. It is concluded that the Zarit scale is valid and reliable for use in caregivers of people with intellectual disabilities.

BackgroundA digital lag has been reported on access to the internet and performing internet activities for young people with learning disabilities in everyday life. AimThe aim of this study is to explore environmental opportunities and challenges when performing internet activities and how internet use influences social and community participation for young people with learning disabilities from the perspectives of the target group. MethodsAn inductive design was applied, with focused observations and follow-up interviews of 15 internet-using young persons with learning disabilities in their everyday settings. The data was analysed interpretatively using open coding. FindingsThe environment offered both opportunities and challenges in terms of the design of digital devices and digital support. Support from peers was often preferred. All participants performed internet activities related to social participation although not all used social media. Searching for information was performed, however, finding the information or understanding it was challenging and led to restricted participation in the community. ConclusionMore examples of internet use positively influencing social participation were found, contrary to community participation. It is indicated that concrete learning situations when using the internet for social participation were more adapted to the participants and promoted this type of participation, contrary to situations of internet use influencing community participation.

People with intellectual disability lack opportunities to engage in sports, although the benefits of doing so may be even greater for them. One option is to encourage their inclusion in mainstream sports clubs that exist in nearly all European communities. Although there is a growing knowledge base within organisations such as Special Olympics in adjusting sports to meet the needs of people with intellectual disability, inclusion in community clubs raises additional challenges. This exploratory study aimed to garner the experiences of coaches alongside those of clubs members—with and without disabilities—in 12 community sports clubs in three European countries. In all 20 coaches and 51 members took part in semi-structured interviews. A thematic content analysis was used to devise a conceptual model describing an inclusive sports club. The overarching theme was that inclusive clubs require an ongoing balancing between a focus on sporting skills and performance, with managing the needs and characteristics of the players and the inter-relationships among them. Six subthemes were identified that described the core strategies to the effective functioning of the clubs. However, the vision and commitment of coaches was crucial and their recruitment was the main challenge the clubs faced. In addition, new opportunities for training coaches are needed to support the extension of inclusive clubs across a range of sports and locations. Continuing research could usefully identify the benefits to club members and identify sport-specific adaptations required to make clubs more fully inclusive.

According to the socio-ecological model, intellectual disability is a multidimensional state of human existence, which is considered in relation to the requirements of the environment. One of the factors of this model, is the context, indicates that the functioning of a person with a disability is influenced by many internal characteristics of the person and their environment. They also include the spiritual and religious experiences of a person with intellectual disability. This article will discuss issues related to the religiosity of this group of people as important for their functioning. It includes a meta-analysis of the results of research on this issue. The cognitive, emotional-motivational and behavioral components of the religious attitude will be presented. These issues are relatively rarely discussed in the literature on the subject. The analysis of the literature on the subject shows that religiosity is of great importance for the functioning of people with intellectual disabilities. Religious experiences (emotional component) and religious practices (behavioral component) are of particular importance to them. Zgodnie z modelem społeczno-ekologicznym niepełnosprawność intelektualna jest wielowymiarowym stanem ludzkiej egzystencji, który rozpatruje się w relacji do wymogów środowiska. Jeden z czynników tego modelu, tj. kontekst, wskazuje na to, iż na funkcjonowanie osoby z niepełnosprawnością wpływa wiele właściwości wewnętrznych osoby oraz jej otoczenia. Do nich należą też doświadczenia duchowe i doświadczenia religijne osoby z niepełnosprawnością intelektualną. W artykule tym będą omawiane kwestie związane z religijnością tej grupy osób jako istotne dla ich funkcjonowania. Dokonana w nim została metaanaliza wyników badań dotyczących tego zagadnienia. Przedstawiony będzie komponent poznawczy, emocjonalno-motywacyjny oraz behawioralny postawy religijnej. Zagadnienia te są stosunkowo rzadko poruszane w literaturze przedmiotu. Analiza literatury przedmiotu wskazuje na to, iż religijność ma duże znaczenie dla funkcjonowania osób z niepełnosprawnością intelektualną. Szczególnie ważne są dla nich doświadczenia religijne (komponent emocjonalny) oraz praktyki religijne (komponent behawioralny).

The effectiveness of concept maps presented within the context of direct instruction in teaching vehicles to three children with intellectual disabilities was examined. A multiple baseline across participants design was used. The participants of the study consisted of three students with intellectual disability between the ages of 7 and 10. While the dependent variable in this study was the learning performance of the target students about vehicles, the independent variable was the concept map technique presented through direct instruction. Data were analyzed using graphical/visual analysis. The findings showed that the use of concept maps, presented through direct instruction, was effective in teaching vehicles to children with intellectual disabilities, and that children were able maintain their performance 7, 14 and 21 days after the end of the instruction. Moreover, it was found that teachers' opinions about concept maps were positive. As a result, the concept maps technique presented through direct instruction is effective in teaching vehicles to children with intellectual disabilities., Bu araştırmada, zihin yetersizliği olan öğrencilere ulaşım türlerine göre taşıtların öğretiminde kullanılan kavram haritalarının etkililiği incelenmiştir. Araştırmada tek-denekli araştırma yöntemlerinden yoklama evreli denekler arası çoklu yoklama modeli kullanılmıştır. Araştırmanın deneklerini zihin yetersizliğine sahip olan 7 ile 10 yaşları arasında üç öğrenci oluşturmuştur. Bu araştırmanın bağımlı değişkeni, öğrencilerin taşıtlar konusunu ulaşım türlerine göre göstererek ayırt etmeleridir. Bağımsız değişken ise, doğrudan öğretim yöntemiyle sunulan kavram haritası tekniğidir. Araştırma verileri, grafiksel/görsel analiz yoluyla analiz edilmiş olup, araştırma bulguları, zihin yetersizliğine sahip çocuklara, taşıtların öğretiminde doğrudan öğretim yöntemiyle sunulan kavram haritaları tekniğinin kullanımının etkili olduğunu, öğretim sona erdikten yedi, 14 ve 21 bir gün sonra da kalıcılığını koruyabildiğini göstermiştir.

Los entornos virtuales de aprendizaje (EVA) permiten crear procesos donde la formación y la interacción didáctica entre el profesorado y el alumnado se producen a través de cursos, tutorías virtuales, foros, etc., sin importar su ubicación y el momento en el que acceden. El objetivo de este trabajo es evaluar la EVA e-APSA, creada con la finalidad de dar soporte a la comunicación y la intervención socioeducativa en la asociación APSA, una ONG dirigida a personas con discapacidad intelectual y su entorno para mejorar su calidad de vida, favoreciendo al máximo su autonomía y el desarrollo de su potencial. Virtual learning environments (EVA) allow the creation of processes where training and didactic interaction between teachers and students occur through courses, virtual tutorials, forums, etc., regardless of their location and the time at which they access. The objective of this work is to evaluate the EVA e-APSA, created with the aim of supporting communication and socio-educational intervention in the APSA association, an NGO aimed at people with intellectual disabilities and their environment to improve their quality of life, maximizing their autonomy and the development of their potential.

Spanish universities still face many barriers to the training of people with disabilities, especially with intellectual disabilities (ID). In general, continuing higher education courses are the main training response for the latter. Knowing the impact that confinement by COVID-19 has had on the students of these courses is a relevant element. The present investigation focused on analyzing the case of the confinement experience of 12 young students with ID who attended the continuing training program called Unidiversidad at the University of Alcalá (Spain). In particular, the implications on their emotional well-being, interpersonal relationships, and individual training were analyzed. Information was collected through a semi-structured interview with the students and a questionnaire with their relatives. The results reflect changes in emotional well-being linked to the increased concern of students for the health of their families. Interpersonal relationships were also affected, although participants tried to compensate for the lack of face-to-face interaction with instant messaging applications and video calls. The change in training to the online modality generated concern and uncertainty in students, although it also provided learning opportunities, which have been supported by peer tutoring and support from teachers. This work has been supported by the University Teaching Research Network Program of the Institute of Educational Sciences of the University of Alicante (2020-21 call). Ref. 5100.

Background: Interventions for challenging behaviours in individuals with intellectual disabilities benefit from outcome monitoring that takes clients' preferences into account. We determined clients' and representatives' preferred outcome domains and measures to secure their involvement in treatment decisions for challenging behaviours. Method: We used an inclusive Delphi method. A focus group of individuals with mild intellectual disabilities and representatives of those with moderate and severe intellectual disabilities prepared the first round by assisting us in collecting possible outcomes. Panels of individuals with intellectual disabilities and representatives were composed to achieve consensus on instruments for preferred outcome domains. Results: Preferred outcome domains were behaviour, side-effects of psychotropic drugs, quality of life, daily functioning, caregiver burden and family quality of life. Corresponding outcome measures included self-report, interview and proxy-scales, including spoken versions. Conclusion: Including the preferred domains on outcomes of interventions for challenging behaviours is recommended. Research on corresponding outcome measures is necessary.

KLHL20 is part of a CUL3-RING E3 ubiquitin ligase involved in protein ubiquitination. KLHL20 functions as the substrate adaptor that recognizes substrates and mediates the transfer of ubiquitin to the substrates. Although KLHL20 regulates neurite outgrowth and synaptic development in animal models, a role in human neurodevelopment has not yet been described. We report on a neurodevelopmental disorder caused by de novo missense variants in KLHL20.Patients were ascertained by the investigators through Matchmaker Exchange. Phenotyping of patients with de novo missense variants in KLHL20 was performed.We studied 14 patients with de novo missense variants in KLHL20, delineating a genetic syndrome with patients having mild to severe intellectual disability, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity, and subtle dysmorphic facial features. We observed a recurrent de novo missense variant in 11 patients (NM_014458.4:c.1069GA p.[Gly357Arg]). The recurrent missense and the 3 other missense variants all clustered in the Kelch-type β-propeller domain of the KLHL20 protein, which shapes the substrate binding surface.Our findings implicate KLHL20 in a neurodevelopmental disorder characterized by intellectual disability, febrile seizures or epilepsy, autism spectrum disorder, and hyperactivity.

There is limited knowledge about inequalities regarding palliative care access among patients with intellectual disability. The present scoping review aimed to identify the existing barriers that limit access to palliative care (PC) in patients with intellectual disability.We conducted a literature review on publications since 2014 from three databases (MEDLINE, Biomed Central, and Elsevier Scopus), along with hand searches in scientific journals. The review included peer-reviewed studies written in English and Spanish language with quantitative and qualitative study designs. The participants were patients with intellectual disability and health professionals who had worked with them or had experience in palliative care.22 studies met the selection criteria. The barriers identified were under referral to palliative care, reduced access, communication, and limited knowledge and experience by health professionals.Patients with intellectual disability do not get referred to PC frequently. Health professionals and caregivers do not recognize when it is necessary to make a referral, and they need to improve their communication abilities. Also, health care workers need more training in PC, pain management, anticipation of death, and use of opioids. More research and education on the palliative care needs and care for patients with intellectual disabilities is needed.

Although pediatricians and family physicians often refer children to early intervention (EI) and provide support and information to families, medical school training that provides information about special education policy and procedures is often limited. We piloted a program whereby medical students, during their pediatric clerkship, observed school classrooms that included young children with disabilities. Visit impact was measured through assessments of perceived competency and a written reflection. Students showed perceived competency growth across all areas measured. Written reflections demonstrated understanding of special education practices and collaborative opportunities. These findings suggest that incorporating experiential learning through facilitated school visits is a way to enhance the learning experience of medical students on topics essential to supporting children with disabilities and their families.

PURPOSE: The aim of this longitudinal study was to assess trabecular bone scores (TBS) in institutionalized adults with refractory epilepsy and intellectual disability and to study the association of TBS and incident fractures during seven years of follow-up.METHODS: In 2009 and 2016, all institutionalized adult patients of a long-stay care facility in the Netherlands (n=261) were invited to undergo a dual-energy X-ray absorptiometry (DXA) including vertebral fracture assessment (VFA) and assessment of TBS. Vertebrae T4-L4 were analyzed using quantitative morphometry. New and worsening vertebral fractures (VFs) were considered as incident VFs. Data regarding clinical fractures were extracted from the medical files. Patients were treated with anti-osteoporosis medication according to the Dutch guideline.RESULTS: Baseline and follow-up DXA, VFA and TBS could be obtained in 136 patients (83 male) aged between 18 and 79 years old (44.7±15.5). At baseline, 36 patients (26.5%) were diagnosed with osteoporosis, 68 (50.0%) with osteopenia and 32 patients (23.5%) had a normal bone mineral density (BMD). As for TBS, 26 patients (19.1%) had a partially degraded microarchitecture and 26 patients (19.1%) a degraded microarchitecture. During seven years of follow-up, 80 patients (59%) sustained at least one fracture, of which 28 patients (35%) had one or more major osteoporotic fractures. Thirty-four patients (25.0%) had at least one new or worsening morphometric VF. Compared to baseline, TBS significantly decreased over seven years of follow-up in non-treated patients (-0.039±0.064, pCONCLUSION: In this study, we found a high incidence of fractures and TBS decreased significantly over seven years of follow-up in non-treated institutionalized adult patients with refractory epilepsy and intellectual disability, but TBS was not associated with incident fractures.

An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap (SRO) spanning six Xq22.2 genes (BEX3, RAB40A, TCEAL4, TCEAL3, TCEAL1, and MORF4L2) associate with an early-onset neurological disease trait (EONDT) consisting of hypotonia, intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. None of the genes within the SRO have been associated with monogenic disease in OMIM. Through local and international collaborations facilitated by GeneMatcher and Matchmaker Exchange, we have identified and herein report seven de novo variants involving TCEAL1 in seven unrelated families: three hemizygous truncating alleles; one hemizygous missense allele; one heterozygous TCEAL1 full gene deletion; one heterozygous contiguous deletion of TCEAL1, TCEAL3, and TCEAL4; and one heterozygous frameshift variant allele. Variants were identified through exome or genome sequencing with trio analysis or through chromosomal microarray. Comparison with previously reported Xq22 deletions encompassing TCEAL1 identified a more-defined syndrome consisting of hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features include strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies. An additional maternally inherited hemizygous missense allele of uncertain significance was identified in a male with hypertonia and spasticity without syndromic features. These data provide evidence that TCEAL1 loss of function causes a neurological rare disease trait involving significant neurological impairment with features overlapping the EONDT phenotype in females with the Xq22 deletion.

The authors examined how the COVID-19 pandemic affected the behavioral health of people with intellectual and developmental disabilities (IDD).A modified version of the Coronavirus Health Impact Survey-Adapted for Autism and Related Neurodevelopmental Conditions was sent to the authors' clinical networks and IDD-affiliated organizations from March to June 2021.In total, 437 people with IDD or their caregivers responded to the survey. Diagnoses included intellectual disability (51%) and autism spectrum disorder (48%). More than half (52%) of respondents reported worsened mental health. Losing access to services correlated with declining mental health. Interventions suggested to improve behavioral health included more time with friends and family (68%), more time outdoors (61%), and access to community activities (59%).COVID-19 affected the behavioral health of individuals with IDD. Survey results highlight the opportunity to leverage physical activity and pandemic-safe social supports as accessible means to mitigate gaps in services.

Individuals with intellectual and developmental disabilities (IDDs) are at increased risk for serious metabolic comorbidities, which is further exacerbated by the high rate of antipsychotic use in this population. There is currently a lack of literature on effective treatment options for antipsychotic-induced weight gain and metabolic abnormalities in IDD. This case series reports on the clinical use of metformin in patients with IDD on antipsychotics.We conducted a retrospective review of patients in a novel clinical service at the Centre for Addiction and Mental Health in Toronto, Ontario, Canada for adults with IDD experiencing antipsychotic-related weight gain and other metabolic aberrations. Charts were reviewed for weight and other metabolic outcome measures before and after commencing metformin treatment.In 11 patients referred to this clinic, the mean weight loss while on metformin treatment was 11.1 kg, with over 50% of the sample achieving clinically meaningful weight loss of7%. Additional adaptive changes were observed for fasting glucose, glycated hemoglobin, triglyceride, and high-density lipoprotein cholesterol levels.In line with its use in severe mental illness, metformin may be a safe, effective, and accessible treatment option for patients with IDD experiencing metabolic adverse effects of antipsychotic medication. Further research and randomized controlled trials are needed to examine the efficacy of metformin in this population.

Proper neuronal development is essential to growth and adult brain function. Alterations at any step of this highly organized sequence of events, due to genetic mutations or environmental factors, triggers brain malformations, which are leading causes of diseases including epilepsy, intellectual disabilities, and many others. The role of glycosylation in neuronal development has been emphasized for many years, notably in studying human congenital disorders of glycosylation (CDGs). These diseases highlight that genetic defects in glycosylation pathways are almost always associated with severe neurological abnormalities, suggesting that glycosylation plays an essential role in early brain development. Congenital disorders of O-GlcNAcylation are no exception, and all mutations of the O-GlcNAc transferase (OGT) are associated with X-linked intellectual disabilities (XLID). In addition, mouse models and in vitro mechanistic studies have reinforced the essential role of O-GlcNAcylation in neuronal development and signaling. In this review, we give an overview of the role of O-GlcNAcylation in this critical physiological process and emphasize the consequences of its dysregulation.

This study describes factors associated with COVID-19 precautions (i.e., self-isolation and the use of personal protective equipment) among a sample of adults with intellectual and developmental disabilities (IDD) in Ontario, Canada.The sample included 756 home care recipients with IDD who did not test positive for COVID-19 between March 2020 and July 2021. Among these, some received COVID-19 precautions. Precaution data were obtained from a large metropolitan organization serving persons with IDD in Ontario, and linked to home care assessment data. Unadjusted and adjusted odds ratios with 95% confidence intervals were calculated using logistic regression models to examine the association between COVID-19 cautions and demographic and clinical factors. Effect modification and interactions were explored.One hundred twenty-seven (16.8%) home care clients experienced precautions. After adjustment, congregate setting, aggression, and limited mobility were significantly associated with COVID-19 precautions. Age modified the relationship between congregate setting and precautions.Pandemic responses need to recognize the impact on subgroups of adults with IDD, such as those living in congregate settings (including younger individuals) or engaging in responsive behaviors. How these precautions impacted individuals-in the short and long term-warrants further investigation.

Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular, craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability and progressive fibrosis. It is caused by germline variants in the transcriptional co-regulator SMAD4 that localize at two positions within the SMAD4 protein, I500 and R496, with I500 V/T/M variants more commonly identified in individuals with Myhre syndrome. Here we assess the functional impact of SMAD4-I500V variant, identified in two previously unpublished individuals with Myhre syndrome, and provide novel insights into the molecular mechanism of SMAD4-I500V dysfunction. We show that SMAD4-I500V can dimerize, but its transcriptional activity is severely compromised. Our data show that SMAD4-I500V acts dominant-negatively on SMAD4 and on receptor-regulated SMADs, affecting transcription of target genes. Furthermore, SMAD4-I500V impacts the transcription and function of crucial developmental transcription regulator, NKX2-5. Overall, our data reveal a dominant-negative model of disease for SMAD4-I500V where the function of SMAD4 encoded on the remaining allele, and of co-factors, are perturbed by the continued heterodimerization of the variant, leading to dysregulation of TGF and BMP signaling. Our findings not only provide novel insights into the mechanism of Myhre syndrome pathogenesis but also extend the current knowledge of how pathogenic variants in SMAD proteins cause disease.

This hypothesis-testing study evaluated the relationship between fetal alcohol syndrome (FAS) and neurodevelopmental disorder (ND) diagnoses within the Independent Healthcare Research Database (IHRD).De-identified eligibility and claim healthcare records prospectively generated from the 1990-2012 Florida Medicaid system were analyzed using SAS software. There were 89,766 children continuously eligible with ≥10 outpatient office visits during the 120 month period following birth in the cohort examined. A total of 321 children were diagnosed with FAS. Autism spectrum disorder (ASD) (n = 922), tics (n = 551), attention deficit disorder/attention deficit-hyperactivity disorder (ADD/ADHD) (n = 20,260), mental retardation (MR) (n = 915), and specific delays in development (SDD) (n = 24,630) incidence rates were examined using frequency risk ratio (RR) and logistic regression models.The incidence rate of tics (RR = 5.68), ADD/ADHD (RR = 2.30), MR (RR = 7.83), SDD (RR = 2.88), and ASD (RR = 6.74) were significantly increased among FAS diagnosed children as compared to undiagnosed children. Adjusted (for gender, race, residency, and date of birth) odds ratios (ORs) were significantly increased for tics (OR = 4.87), ADD/ADHD (OR = 3.40), MR (OR = 7.91), SDD (OR = 9.56), and ASD (OR = 6.87) when comparing the FAS diagnosed children to undiagnosed children.Tens of thousands of American children with lifetime costs in the billions of US dollars were estimated to be impacted by FAS-associated NDs. These impacts are particularly tragic because FAS is dependent upon lifestyle.

O artigo é resultado de uma pesquisa, de natureza qualitativa, desenvolvida em Salvador, no ano de 2014, e cujo tema foi o percurso de cuidado e educação das pessoas com deficiência. Mais especificamente, perguntamos às famílias sobre a formação e atuação das redes de apoio parental e social no cuidado e educação da pessoa com deficiência intelectual. Analisamos, assim, as estratégias de cuidado elaboradas e experienciadas pelas famílias diante da necessidade de cuidar, educar e socializar filhos(as) com deficiência intelectual. A pesquisa foi baseada em entrevistas semiestruturadas com dezesseis famílias de pessoas com deficiência intelectual, adultas, moradoras de Salvador, Bahia. Os resultados obtidos na investigação revelaram uma realidade familiar em que as mães aparecem como as principais cuidadoras dos(as) filhos(as). Evidenciou-se também que o apoio fornecido pelas redes parental e social se revelam como fatores determinantes no processo de cuidado, educação e socialização do(a) filho(a) com deficiência intelectual, tendo em vista que, quanto maior é o apoio recebido, mais qualidade de vida se garante às pessoas com deficiência e às suas famílias. A pesquisa aponta a necessidade de novos estudos comparativos que estabeleçam a relação entre a influência das redes de solidariedade familiar e social no desenvolvimento da pessoa com deficiência intelectual The article is the result of a qualitative research carried out in Salvador, in 2014, whose theme was the care and education path of people with disabilities. More specifically, we asked families about the formation and performance of parental and social support networks in the care and education of people with intellectual disabilities. Thus, we analyzed the care strategies developed and experienced by families in view of the need to care for, educate and socialize children with intellectual disabilities. The research was based on semi-structured interviews with sixteen families of people with intellectual disabilities, adults, living in Salvador, Bahia. The results obtained in the investigation revealed a family reality in which mothers appear as the main caregivers of their children. It was also evidenced that the support provided by parental and social networks are revealed as determining factors in the process of care, education and socialization of the child with intellectual disability, considering that the greater the support received, the greater the support received. better quality of life is guaranteed for people with disabilities and their families. The research points to the need for new comparative studies that establish the relationship between the influence of family and social solidarity networks on the development of people with intellectual disabilities. El artículo es resultado de una investigación cualitativa realizada en Salvador, en 2014, cuyo tema fue el camino de atención y educación de las personas con discapacidad. Más concretamente, preguntamos a las familias sobre la formación y funcionamiento de las redes de apoyo parental y social en la atención y educación de las personas con discapacidad intelectual. Así, analizamos las estrategias de cuidado desarrolladas y experimentadas por las familias ante la necesidad de cuidar, educar y socializar a los niños con discapacidad intelectual. La investigación se basó en entrevistas semiestructuradas con dieciséis familias de personas con discapacidad intelectual, adultos, residentes en Salvador, Bahía. Los resultados obtenidos en la investigación revelaron una realidad familiar en la que las madres aparecen como las principales cuidadoras de sus hijos. También se evidenció que el apoyo que brindan los padres y las redes sociales se revelan como factores determinantes en el proceso de cuidado, educación y socialización del niño con discapacidad intelectual, considerando que a mayor apoyo recibido, mayor apoyo recibido de mejor calidad. de vida está garantizada para las personas con discapacidad y sus familias. La investigación apunta a la necesidad de nuevos estudios comparativos que establezcan la relación entre la influencia de las redes de solidaridad familiar y social en el desarrollo de las personas con discapacidad intelectual.

Kinesin Family Member 21B (KIF21B) encoded by KIF21B (MIM*608322), belongs to the Kinesin superfamily proteins, which play a key role in microtubule organisation in neuronal dendrites and axons. Recently, heterozygous variants in KIF21B were implicated as the cause of intellectual disability and brain malformations in four unrelated individuals. We report a 9-year-old male with delayed speech, hyperactivity, poor social interaction, and autistic features. A parent-offspring trio exome sequencing identified a novel de novo rare heterozygous variant, NM_001252102.2: c.1513AC, p.(Ser505Arg) in exon 11 of KIF21B. In vivo functional analysis using in utero electroporation in mouse embryonic cortex revealed that the expression of Ser505Arg KIF21B protein in the cerebral cortex impaired the radial migration of projection neurons, thus confirming the pathogenicity of the variant. Our report further validates pathogenic variants in KIF21B as a cause of neurodevelopmental disorder.

Family quality of life (FQoL) outcomes collected during the first year of COVID-19 has been combined with 2018 data to estimate the outbreak's impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs). Despite challenges imposed by the COVID-19 outbreak, our study found that FQoL outcomes reported by participating parents during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. Parents of children in our sample generally displayed a stable functioning trajectory as measured by the validated FQoL instrument. Across syndromic autistic groups considered, families reported that their relationships with their children were positive. Our findings provide evidence of families' resilience which might explain the presence of positive parent-child interactions during COVID-19. Exploring mechanisms which would explain how families with autistic and ID children confront, manage disruptive experiences, and buffer COVID-19 induced stress is a fruitful direction for future research.

Chromosome 16p11.2 reciprocal genomic disorder, resulting from recurrent copy-number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD), and schizophrenia, but the responsible mechanisms are not known. To systemically dissect molecular effects, we performed transcriptome profiling of 350 libraries from six tissues (cortex, cerebellum, striatum, liver, brown fat, and white fat) in mouse models harboring CNVs of the syntenic 7qF3 region, as well as cellular, transcriptional, and single-cell analyses in 54 isogenic neural stem cell, induced neuron, and cerebral organoid models of CRISPR-engineered 16p11.2 CNVs. Transcriptome-wide differentially expressed genes were largely tissue-, cell-type-, and dosage-specific, although more effects were shared between deletion and duplication and across tissue than expected by chance. The broadest effects were observed in the cerebellum (2,163 differentially expressed genes), and the greatest enrichments were associated with synaptic pathways in mouse cerebellum and human induced neurons. Pathway and co-expression analyses identified energy and RNA metabolism as shared processes and enrichment for ASD-associated, loss-of-function constraint, and fragile X messenger ribonucleoprotein target gene sets. Intriguingly, reciprocal 16p11.2 dosage changes resulted in consistent decrements in neurite and electrophysiological features, and single-cell profiling of organoids showed reciprocal alterations to the proportions of excitatory and inhibitory GABAergic neurons. Changes both in neuronal ratios and in gene expression in our organoid analyses point most directly to calretinin GABAergic inhibitory neurons and the excitatory/inhibitory balance as targets of disruption that might contribute to changes in neurodevelopmental and cognitive function in 16p11.2 carriers. Collectively, our data indicate the genomic disorder involves disruption of multiple contributing biological processes and that this disruption has relative impacts that are context specific.

Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. Affected patients most commonly exhibit some or all of the following: neonatal hypotonia, developmental impairment, facial dysmorphic features, and congenital malformations. Epilepsy occurs in approximately half, often with phenotypes on the epilepsyaphasia spectrum. We describe six children with KdVS found to have continuous spike-wave in sleep (CSWS) on EEG, four of whom were diagnosed with epileptic encephalopathy with CSWS and two with Landau-Kleffner syndrome. When compared with other children with CSWS on EEG, patients with KdVS may present at slightly later ages and with a longer interval between seizure diagnosis and identification of CSWS. There is no clear best treatment for children with CSWS, but two patients in our cohort were trialed on a variation of the ketogenic diet, and both reported clinical improvement. In one of the patients, the response was dramatic, and CSWS recurred when weaning of the ketogenic diet was attempted. Based on our findings, an EEG capturing a prolonged period of sleep should be arranged in any child with KdVS presenting with developmental regression or plateau, particularly if they have a preceding history of seizures.

l-amino acid decarboxylase deficiency (AADCD) is an ultrarare autosomal recessive defect of biogenic amine synthesis that presents with early-onset encephalopathy progressing to severe neurological impairment and intellectual disability. We aimed to explore neurocognitive and behavioral profiles associated with AADCD and possible factors predicting outcome in more detail.Nine AADCD patients (23.2 ± 10.3 years; range 8-40) underwent systematic clinical and neuropsychological assessment. Diagnostic levels of CSF 5-hydroxyindolacetic acid (5-HIAA) and homovanillic acid (HVA), and DDC genotype (as ascertained by American College of Medical Genetics and Genomics grading) were included in the data analysis.All AADCD patients were affected by intellectual disability and psychiatric disorders. Movement disorders included parkinsonism-dystonia, dysarthria, and oculogyric crises. CSF 5-HIAA and HVA levels at diagnosis had a significant influence on adaptive behavior and executive function performance. Patients homozygous for DDC pathogenetic variants showed lower CSF 5-HIAA and HVA levels and higher Unified Parkinson's Disease Rating Scale scores. The disease showed a self-limiting clinical course with partial improvement under pharmacological treatment (B6 and dopamine mimetic drugs).Patients with AADCD suffer from neuropsychological and psychopathological impairment, which may be improved but not reversed under the present therapeutic approach. However, cognitive functioning should be specifically examined in order to avoid its underestimation on the basis of movement disorder severity. Genotype and biogenic amine level at diagnosis have an important prognostic value.

Very low-birth-weight infants (VLBWI) are at high risk for adverse neurodevelopmental outcomes. A new, feasible and practical classification system for white matter injury has been reported by Martinez-Biarge et al. Therefore, we investigated the relationship between white matter injury and neurodevelopmental outcomes using this system.We enrolled a consecutive series of VLBWI birth weights1500 g between 2012 and 2015. Two radiologists evaluated the brain MRI obtained in the VLBWI at term-equivalent age. MRI findings were classified into six Grades (Grade 0, Ia, Ib, II, III, IV). The frequency of abnormalities in each Grade was examined. The neurodevelopmental outcome of the VLBWI was assessed at two years or older, and we investigated the presence of cerebral palsy (CP) and intellectual disability (ID), and other serious outcomes. We also calculated the simple kappa value before the raters were matched.Among 167 VLBWI, 131 met the eligibility criteria. 114 was Grade 0 (87%), 11 was Grade I (8.4%), 3 was Grade II (2.3%), 1 was Grade III (0.8%), and 2 was Grade IV (1.5%). The frequency of any abnormalities of intelligence in Grade 0 was 24%. The frequency of CP in Grade I was 18%. All Grade III and Grade IV cases had mild CP and an ID. The simple kappa value was 0.95.The prognostic value of the MRI scoring tool was limited. However, all Grade III and Grade IV cases had mild CP and ID. The results demonstrated an excellent inter-rater correlation.

MTSS2, also known as MTSS1L, binds to plasma membranes and modulates their bending. MTSS2 is highly expressed in the central nervous system (CNS) and appears to be involved in activity-dependent synaptic plasticity. Variants in MTSS2 have not yet been associated with a human phenotype in OMIM. Here we report five individuals with the same heterozygous de novo variant in MTSS2 (GenBank: NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing. The individuals present with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms. Immunoblots of fibroblasts from two affected individuals revealed that the variant does not significantly alter MTSS2 levels. We modeled the variant in Drosophila and showed that the fly ortholog missing-in-metastasis (mim) was widely expressed in most neurons and a subset of glia of the CNS. Loss of mim led to a reduction in lifespan, impaired locomotor behavior, and reduced synaptic transmission in adult flies. Expression of the human MTSS2 reference cDNA rescued the mim loss-of-function (LoF) phenotypes, whereas the c.2011C>T variant had decreased rescue ability compared to the reference, suggesting it is a partial LoF allele. However, elevated expression of the variant, but not the reference MTSS2 cDNA, led to similar defects as observed by mim LoF, suggesting that the variant is toxic and may act as a dominant-negative allele when expressed in flies. In summary, our findings support that mim is important for appropriate neural function, and that the MTSS2 c.2011C>T variant causes a syndromic form of intellectual disability.

Maternal infections during pregnancy are associated with intellectual disability and autism in exposed children. Whether these associations are causal, and therefore should be targets of preventive strategies, remains unknown. We aimed to investigate these associations, to determine whether there is a causal role of maternal infection during pregnancy for children's risk of autism and intellectual disability, by accounting for unmeasured familial factors.We used a register-based cohort study design, and included children living in Stockholm County, Sweden, who were born in 1987-2010. We excluded children not born in Sweden, adopted children, and children with unknown biological mothers or fathers. Maternal infections during pregnancy, defined by ICD-8, ICD-9, and ICD-10 codes, were identified in the National Patient Register and Medical Birth Register. Children were followed up from birth to an outcome or a censoring event (death, migration from Stockholm, age 18 years, or Dec 31, 2016, whichever occurred first). The primary outcomes were diagnosis of autism or diagnosis of intellectual disability. We did a survival analysis to examine the association between inpatient and outpatient specialised care for any infection during pregnancy and likelihood of autism or intellectual disability in the child. To address potential residual confounding, we also estimated the relationship between maternal infection in the year preceding pregnancy as a negative control exposure and conducted a matched sibling analysis of sibling pairs who were discordant for autism or intellectual disability.647 947 children living in Stockholm County were identified and, after excluding 97 980 children, we included 549 967 in the study (267 995 [48·7%] were female and 281 972 [51·3%] were male; mean age at censoring 13·5 years [SD 5·0; range1 to 18]; 142 597 [25·9%] had a mother who was not born in Sweden). 445 (1·3%) of 34 013 children exposed to maternal infection during pregnancy were diagnosed with intellectual disability and 1123 (3·3%) with autism. 5087 (1·0%) of 515 954 unexposed children were diagnosed with intellectual disability and 13 035 (2·5%) with autism. Maternal infection during pregnancy was associated with autism (hazard ratio [HR] 1·16, 95% CI 1·09-1·23) and intellectual disability (1·37, 1·23-1·51) in exposed children compared with unexposed children. Maternal infection in the year before pregnancy (negative control exposure) was also associated with autism (HR 1·25, 95% CI 1·14-1·36), but was not associated with intellectual disability (1·09, 0·94-1·27). In sibling comparisons, the associations with maternal infection during pregnancy were attenuated for autism (HR 0·94, 95% CI 0·82-1·08; n=21 864), but not to the same extent for intellectual disability (1·15, 0·95-1·40; n=9275).Although infections in pregnant women are associated with both autism and intellectual disability in their children, the association with autism does not appear to reflect a causal relationship, but is more likely to be explained by factors shared between family members such as genetic variation or aspects of the shared environment. Thus, infection prevention is not expected to reduce autism incidence. For intellectual disability, unmeasured familial factors might not fully explain the observed associations, and a causal role of maternal infections cannot be excluded. Causal effects of specific but rare infections or infections not requiring health care contact cannot be excluded in either autism or intellectual disability.Swedish Research Council, Stanley Medical Research Institute, and Autism Speaks.For the Swedish translation of the abstract see Supplementary Materials section.

Communication infuses all dimensions and stages of life, influencing one's self-determination and quality of life. A number of empirical studies have demonstrated that people with severe disabilities continue to develop communication and language skills well into their adult years and make measurable gains when provided with appropriate communication services and supports. Several myths about age, ability, and experiences limit opportunities for persons with severe disabilities. In this paper, we confront and address these myths.

This scoping review explores (a) barriers faced by immigrant families of children with intellectual and developmental disabilities (IDD) when accessing healthcare-related services in the United States, (b) where research stands based on the health disparity research framework, and (c) implications for future health disparities research with this population. Our scoping review found 26 empirical studies published between 2000 and 2020 that met our inclusion criteria. Data were extracted and synthesized based on the stages of research outlined in the health disparity research framework. Overall, immigrant families experienced barriers on multiple levels including patient, provider, and healthcare system levels. Studies focusing on detecting and reducing disparities are emerging. We conclude with recommendations for future research and practice with immigrant families of children with IDD.

ATP6V1B2 pathogenic variants are linked with variable phenotypes, such as dominant deafness-onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann-Laband syndrome type 2 (ZLS2), and some cases of DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [ID], and seizures). Epilepsy was first linked to ATP6V1B2, when the p.(Glu374Gln) missense variant was detected in a patient with ID and seizures, but without characteristic features of DDOD or ZLS2 syndromes. We herein report a novel pathogenic ATP6V1B2:p.Glu374Gly variant detected in an adult patient with ID and myoclonic-atonic seizures. The (re)occurrence of different variants affecting the same highly conserved hydrophilic glutamic acid on position 374 of the V-proton ATPase subunit B, indicates a potential novel pathogenic hotspot and a critical role for the specific residue in the development of epilepsy. ATP6V1B2 gene defects should be considered when analyzing patients with epilepsy, even in the absence of most cardinal features of DDOD, DOORS, or ZLS such as deafness, onychodystrophy, and osteodystrophy.

Durante mucho tiempo las personas con discapacidad intelectual, por su condición, han sido relegadas a un segundo plano en lo referente a su papel como interlocutores válidos en la gestión de sus propias vidas, siendo prácticamente inexistente su participación en las diferentes estructuras sociales. En este estudio, participaron 79 personas con discapacidad intelectual, con una edad media de 36,82 años (±13,50) y grado de discapacidad promedio del 61,70 %. Se utilizaron los instrumentos: Satisfaction with Life Scale (SWLS), Life Orientation Test Revised (LOT-R), Trait Meta Mood Scale 24 (TMMS 24) y Emotional Quotient Inventory (EQi-C). El objetivo fue determinar la relación entre la inteligencia emocional y el optimismo vs pesimismo, actuando como variable mediadora la Satisfacción Vital a través de la estadística multivariante de ecuaciones estructurales. Los resultados evidenciaron la relación positiva entre varias de las dimensiones de los instrumentos utilizados (p < ,01). Por otra parte, el modelo de ecuaciones estructurales obtuvo buena validez estructural (χ²/gl = 2,855; RMSEA = ,074; GFI = ,901; CFI = ,912; IFI = ,919). Las consecuencias prácticas permitirán entender el valor instrumental o mediador de la Satisfacción Vital en los procesos de desarrollo personal y social., For a long time, people with intellectual disabilities, due to their condition, have been relegated to the background regarding their role as valid interlocutors in the management of their own lives, being their participation practically non-existent in the different social structures. In this study, 79 people with intellectual disability participated, with an average degree age of 36.82 years (±13.50) and average degree of disability of 61.70%. The instruments were used: Satisfaction with Life Scale (SWLS), Life Orientation Test Revised (LOT-R), Trait Meta Mood Scale 24 (TMMS 24) and Emotional Quotient Inventory (EQi-C). The objective was to determine the relationship between Emotional Intelligence and Optimism vs Pessimism, acting Life Satisfaction as a mediating variable, using the multivariate statistical of structural equations. On one hand, the results evidenced the positive relationship between several of the dimensions of the instruments used (p < ,01). On the other hand, the structural equation model obtained good structural validity (χ²/gl = 2.855; RMSEA = ,074; GFI = ,901; CFI= ,912; IFI = ,919). The practical consequences will allow us to understand the instrumental or mediating value of Life Satisfaction in the processes of personal and social development.

Background: Swedish employment rates are disproportionately low among people with intellectual disability and research on employment sustainability in this group is scarce. This study investigated employment sustainability among people with intellectual disability, with a focus on identifying facilitators. Method: Fifteen persons with intellectual disability who were gainfully employed and had been so for at least 1 year during the last 3 years, and 10 representatives from their employers, were interviewed. Results: Five facilitators were identified: (1) having tried various types of work, (2) liking to be at work, (3) balance concerning expectations and adaptations, (4) mutual engagement and flexibility, and (5) wage subsidies. Conclusion: Employment sustainability needs to be understood at individual as well as environmental and societal levels. In addition, both duration and progress should be considered regarding employment sustainability in this population.

Background: Views on social care related quality of life (SCRQol) are typically gathered directly from individuals or from proxy informants. Easy-Read options are available, though such methods may not be accessible to those with greater communication challenges.\ud Methods: Fifteen people with intellectual disabilities were interviewed about their SCRQoL using Talking Mats® (TM). A descriptive approach was taken to exploring what people had to say.\ud Results: Participants reported high levels of satisfaction with living conditions and personal care routines. They were mostly satisfied with the level of choice and control they had and with their carers.\ud Conclusions: People with intellectual disabilities who have greater communication challenges can make meaningful contributions to the assessment of the care they receive. Talking Mats is one tool which can be used to support people with intellectual disabilities to give their views.

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chromosome inactivation, the clinical presentations of the affected females vary greatly and clinical manifestations could range from mild intellectual disability to typical features of CLS in males. Here, we reported two different novel RPS6KA3 gene mutations in two unrelated CLS patients and also described concomitant compulsive eyebrow-pulling behavior in one of these cases for the first time in the literature.

Cerebral palsy (CP) is a broad diagnosis unbound by aetiology and is based on a clinical examination demonstrating abnormalities of movement or posture. CP represents a static neurological condition, provided that neurodegenerative conditions, leukoencephalopathies and neuromuscular disorders are excluded. In paediatrics, the genetic conditions associated with CP are rapidly increasing, with primary and overlapping neurodevelopmental conditions perhaps better categorised by the predominant clinical feature such as CP, intellectual disability, autism spectrum disorder or epilepsy. Progress in molecular genetics may challenge what constitutes CP, but a genetic diagnosis does not negate the CP diagnosis. As clinicians working in the field, we discuss the changing tide of CP. Neuroimaging provides essential information through pattern recognition and demonstration of static brain changes. We present examples of children where a layered clinical diagnosis or dual aetiologies are appropriate. We also present examples of children with genetic causes of CP to highlight the challenges and limitations of neuroimaging to provide an aetiological diagnosis. In consultation with a geneticist, access to genomic testing (exome or genome sequencing) is now available in Australia under Medicare billing for children under the age of 10 with dysmorphic features, one or more major structural organ anomalies, (an evolving) intellectual disability or global developmental delay. We encourage the uptake of genomic testing in CP, because it can be difficult to tell whether a child has an environmental or genetic cause for CP. A specific genetic diagnosis may change patient management, reduce guilt and enable more distinctive research in the future to assist with understanding disease mechanisms.

Congregate living settings supporting individuals with intellectual and developmental disabilities (IDD) have experienced unprecedented challenges during the COVID-19 pandemic. This study aimed to explore the development and utilization of infection control policies in congregate living settings supporting individuals with IDD during the COVID-19 pandemic.This qualitative study employed an interpretive description using semi-structured interviews involving administrative personnel from agencies assisting those with IDD residing in Developmental Services congregate living settings in Ontario, Canada.Twenty-two semi-structured interviews were conducted with individuals from 22 agencies. Thematic analysis revealed three categories: Development of infection control policies, Implementation of infection control policies, and Impact of infection control policies. Each category yielded subsequent themes. Themes from the Development of infection control policies category included New responsibilities and interpreting the grey areas, and Feeling disconnected and forgotten. Four themes within the Implementation of infection control policies category included, "It's their home" (i.e. difficulty balancing public health guidance and organizational values), Finding equipment and resources (e.g. supports and barriers), Information overload (i.e. challenges agencies faced when implementing policies), and Emerging vaccination (i.e. perspective of agencies as they navigate vaccination for clients and staff). The category of Impact of infection control policies had one theme-Fatigue and burnout, capturing the impact of policies on stakeholders in congregate living settings.Agencies experienced difficulties developing and implementing infection control policies, impacting the clients they serve and their families and staff. Public health guidance should be tailored to each congregate living setting rather than generally applied.RéSUMé: OBJECTIF: Les lieux d’hébergement collectif pour les personnes ayant une déficience intellectuelle ou de développement (DID) ont affronté des défis sans précédent durant la pandémie de la COVID-19. La présente étude vise à explorer l’élaboration et l’utilisation des politiques de prévention des infections dans les lieux d’hébergement collectif pour les personnes ayant une DID durant la pandémie de la COVID-19. MéTHODES: Cette étude qualitative repose sur la description interprétative lors d’entrevues semi-structurées auprès du personnel administratif des organismes qui viennent en aide aux personnes ayant une DID et résidant dans des lieux d’hébergement collectif en Ontario, au Canada. RéSULTATS: Au total, 22 entrevues semi-structurées ont été effectuées auprès de personnes provenant de 22 organismes. L’analyse thématique a révélé trois catégories : Élaboration des politiques de prévention des infections, mise en œuvre des politiques de prévention des infections, et impacts des politiques de prévention des infections. Chaque catégorie a généré des thèmes subséquents. Les thèmes liés à l’élaboration des politiques de prévention des infections comprenaient les nouvelles responsabilités et l’interprétation des zones grises, et le sentiment de détachement et d’avoir été oublié. Quatre thèmes découlant de la mise en œuvre des politiques de prévention des infections comprenaient « c’est leur maison » (c’est-à-dire difficulté d’équilibrer les mesures de santé publique et les valeurs organisationnelles), trouver de l’équipement et des ressources (p. ex., mesures de soutien et obstacles), surcharge d’information (c’est-à-dire les défis qu’ont dû affronter les organismes lors de la mise en œuvre des politiques) et la vaccination émergente (notamment la perspective des organismes lorsqu’ils ont dû composer avec le processus de vaccination pour la clientèle et le personnel). La catégorie des impacts des politiques de prévention des infections avait un thème : la fatigue et l’épuisement professionnel, saisissant les impacts des politiques de prévention des infections dans les lieux d’hébergement collectif sur ses intervenants. CONCLUSION: Les organismes ont éprouvé des difficultés lors de l’élaboration et la mise en œuvre de politiques de prévention des infections, touchant ainsi leurs clients, leurs familles et leurs employés. Les mesures de santé publique devraient plutôt être adaptées à chaque lieu d’hébergement collectif, et non pas appliquées de façon générale.

Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However, whether and how sensory processing is affected has not yet been considered in detail. Parents/caregivers of 38 children with a 16p11.2 deletion and 31 children with a 16p11.2 duplication completed the Sensory Behavior Questionnaire (SBQ) and the Child Sensory Profile 2 (CSP-2) along with other standardized questionnaires assessing autistic traits (SRS-2), ADHD traits (Conners 3), anxiety (SCAS-P) and adaptive behavior (VABS-3). SBQ and CSP-2 responses found that sensory processing differences were clearly evident in both 16p11.2 deletion and 16p11.2 duplication, though there was significant variation in both cohorts. SBQ data indicated the frequency and impact of sensory behavior were more severe when compared to neurotypical children, with levels being similar to autistic children. CSP-2 data indicated over 70% of children displayed clear differences in sensory registration (missing sensory input). Seventy-one percent with 16p11.2 duplications were also unusually sensitive to sensory information and 57% with 16p11.2 duplications were unusually avoidant of sensory stimuli. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with a 16p11.2 deletion and 16p11.2 duplication demonstrates that sensory processing differences have a profound impact on their lives.

Arginase 1 Deficiency (ARG1-D) is a rare, progressive, metabolic disorder that is characterized by devastating manifestations driven by elevated plasma arginine levels. It typically presents in early childhood with spasticity (predominately affecting the lower limbs), mobility impairment, seizures, developmental delay, and intellectual disability. This systematic review aims to identify and describe the published evidence outlining the epidemiology, diagnosis methods, measures of disease progression, clinical management, and outcomes for ARG1-D patients.A comprehensive literature search across multiple databases such as MEDLINE, Embase, and a review of clinical studies in ClinicalTrials.gov (with results reported) was carried out per PRISMA guidelines on 20 April 2020 with no date restriction. Pre-defined eligibility criteria were used to identify studies with data specific to patients with ARG1-D. Two independent reviewers screened records and extracted data from included studies. Quality was assessed using the modified Newcastle-Ottawa Scale for non-comparative studies.Overall, 55 records reporting 40 completed studies and 3 ongoing studies were included. Ten studies reported the prevalence of ARG1-D in the general population, with a median of 1 in 1,000,000. Frequently reported diagnostic methods included genetic testing, plasma arginine levels, and red blood cell arginase activity. However, routine newborn screening is not universally available, and lack of disease awareness may prevent early diagnosis or lead to misdiagnosis, as the disease has overlapping symptomology with other diseases, such as cerebral palsy. Common manifestations reported at time of diagnosis and assessed for disease progression included spasticity (predominately affecting the lower limbs), mobility impairment, developmental delay, intellectual disability, and seizures. Severe dietary protein restriction, essential amino acid supplementation, and nitrogen scavenger administration were the most commonly reported treatments among patients with ARG1-D. Only a few studies reported meaningful clinical outcomes of these interventions on intellectual disability, motor function and adaptive behavior assessment, hospitalization, or death. The overall quality of included studies was assessed as good according to the Newcastle-Ottawa Scale.Although ARG1-D is a rare disease, published evidence demonstrates a high burden of disease for patients. The current standard of care is ineffective at preventing disease progression. There remains a clear need for new treatment options as well as improved access to diagnostics and disease awareness to detect and initiate treatment before the onset of clinical manifestations to potentially enable more normal development, improve symptomatology, or prevent disease progression.