Search

• We analyzed PNES in individuals with and without intellectual disability (ID). • Clinical management of PNES is similar in both groups of individuals. • Demographic, clinical data and PNES semiology were comparable between the groups. • Cognitive behavioral therapy (CBT) is effective treatment for patients with ID/BIF. We set out to characterize psychogenic non-epileptic seizures (PNES) in individuals with either intellectual disability (ID) or borderline intellectual function (BIF) in comparison to those with normal cognitive function. We aimed to identify differences between the two groups to improve clinical management protocols. We conducted a retrospective, observational, single-center study. The medical records of individuals (aged ≥ 14 years) diagnosed with PNES, confirmed through video-electroencephalography (vEEG) at a specialized epilepsy center between January 2008 and December 2021, were reviewed. We restricted our study to individuals who underwent comprehensive neuropsychological evaluations. Furthermore, demographic, clinical, and neuropsychological data with potential prognostic indicators, alongside the reevaluation of vEEG recordings were studied. We compared two study groups based on intelligence quotient (IQ): individuals without ID (IQ≥85; n = 25) and those with either mild ID or BIF (n = 25). No statistically significant clinical differences were observed between the two groups. Individuals with mild ID/BIF didn't show a longer diagnostic delay, and the prescription of inappropriate antiseizure medications (ASMs) was comparable in both cohorts. Most individuals with mild ID/BIF were treated with behavioral psychotherapeutic approaches with similar outcomes in both subgroups. Individuals with mild ID/BIF and PNES don't differ in clinical management. Demographic and clinical data, as well as semiology, were comparable to those of individuals with normal cognitive function. Cognitive behavioral therapy (CBT) appears to be an effective treatment approach for individuals with and without mild ID/BIF. Further studies are needed to validate and ascertain their possible applicability in individuals with moderate/severe ID. [ABSTRACT FROM AUTHOR]

Background The study aimed to translate and validate the Prolonged Grief Disorder (PG-13) scale from English into Urdu language. This involved examining its psychometric properties, evaluating its factor structure and assessing both convergent and discriminant validity. The study was conducted within the cultural context of Pakistan and focused on the assessment of manifestations of grief, including symptoms of prolonged grief, in adolescents with mild-to-moderate intellectual disability (ID). The PG-13 scale was selected for this study due to its demonstrated accuracy in measuring prolonged grieving symptoms in bereaved population. Method A total of 140 adolescents, aged 10–19 years according to the World Health Organization (WHO) 2018 criteria, were selected from 14 cities in Pakistan. These participants had lost loved ones within the time span of the last 4 years. The WHO (2018) guidelines for translation, adaptation, and validation were followed. Results The findings suggest that the translated and validated PG-13 scale has adequate psychometric properties, with Cronbach alpha coefficient of .97. Confirmatory factor analysis supports a single-factor structure for the scale, with factor loadings ranging from .80 to .95. Conclusion The PG-13 Urdu version is a reliable and validated scale available for assessing grieving symptoms in the Pakistani context. [ABSTRACT FROM AUTHOR]

This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics. [ABSTRACT FROM AUTHOR]

This review is devoted to a comprehensive analysis of DNA copy number variations (CNVs) identified in patients with neurodevelopmental disorders (NDDs) from the literature. The selection of publications was conducted using specifically developed criteria. CNVs were characterized based on their clinical significance, type of copy number alteration (microdeletion/microduplication), size, origin, and gene content. The study sample comprised 3375 patients with NDDs. Pathogenic and likely pathogenic CNVs, as well as variants of uncertain clinical significance, were identified in 395 individuals (12%). Chromosomal variations of each category were identified in 89 (3%), 56 (2%), and 241 (7%) patients, respectively. Nine individuals exhibited combinations of CNVs with different clinical significance. The number of duplications slightly exceeded the number of deletions (250 and 204, respectively). The size of most CNVs ranged from 193 bp to 400 kb and from 1 to 3 Mb (237 and 96, respectively). Seventy-two variants originated de novo, while 165 were inherited. Eighty-six CNVs were associated with 33 known microdeletion/microduplication syndromes. The most prevalent syndromes were 1q21.1 duplication (7/395, 1.8%) (OMIM: 612475), 2p16.3 deletion (9/395, 2.3%) (OMIM: 614332), 15q13.3 deletion (7/395, 1.8%) (OMIM: 612001), 16p11.2 deletion (9/395, 2.3%) (OMIM: 611913), and 22q11.2 duplication (7/395, 1.8%) (OMIM: 608363) syndromes. Enrichment analysis revealed that pathogenic CNVs, as well as variants of uncertain clinical significance, are enriched in genes associated with abnormal behavioral and neurological phenotypes. Likely pathogenic CNVs included genes associated with disorders of the nervous system and homeostasis/metabolism. [ABSTRACT FROM AUTHOR]

Background Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most preventable causes of intellectual disability (ID). Late initiation of thyroid hormone substitution therapy has a negative impact on intellectual abilities in CH patients. Objective To compare Intelligence Quotient (IQ) between children with CH who underwent early treatment among the children without CH. Methods We performed online literature searches of ScienceDirect, Pubmed, Cochrane Library, and Google Scholar. We included clinical studies that examined IQ scores in patients with early-treated CH and without CH. Review Manager 5.4 was used to perform the meta-analysis. Results Twelve studies comparing pediatric patients with and without CH were included in this meta-analysis, for a total of 808 patients. Based on data analysis, IQ levels of verbal IQ [mean difference (MD) -9.05; (95%CI -14.51 to -3.59); (P

The construct of support needs has become a key aspect for the diagnostics, classification, and interventional management of autism spectrum disorders (ASDs). However, instruments specifically designed to assess support needs in this population are not available. Currently, the Supports Intensity Scale for Children (SIS-C), which could be administered to assess students with any type of intellectual disability (ID), is the only valid tool able to assess support needs in Spain. Our aim was to verify whether the SIS-C is useful for assessing the support needs of students with ASD, regardless of whether or not they present ID. The participants were subdivided into two groups. One group included students with ASD and ID (n = 248), and the other comprised participants with ASD without an ID (n = 44). The results of the two groups were compared with those reported in the original validation sample of the SIS-C, which involved participants with ID without ASD (n = 566). The results showed that this scale could be useful for assessing support needs in the three subgroups, but it appeared that different standardized norms based on the characteristics of each specific population would be appropriate. [ABSTRACT FROM AUTHOR]

Given that individuals with autism spectrum disorder (ASD) and intellectual disability (ID) often remain dependent on parental support as they transition into adulthood, this study sought to understand the lived realities of maternal caregivers to adult children with ASD-ID. Ten mothers of adult children with ASD-ID completed semi-structured interviews. Inductive thematic analysis resulted in three themes related to the uncertainties experienced by mothers of adult children with ASD-ID: (1) aging as a caregiver, (2) residence considerations, and (3) importance of permanency planning. Such uncertainties resulted from mothers simultaneously navigating their own aging process and the continued dependency of their child. [ABSTRACT FROM AUTHOR]

The study aimed to examine how social and psychological factors affect behavioral disorders in children with Down syndrome. A survey instrument based on questions was used to collect data from 60 parents of children with Down syndrome. The results showed that involving the Down Syndrome child in family sessions and conversations, excessive thanks to a the Down Syndrome child, interacting with the Down Syndrome child in social occasions, and communicating with the Down Syndrome child with others will decrease his/her behavioral disorders. Living with domestic violence by a Down Syndrome child will increase his/her behavioral disorders. The results show also that giving compassion to your Down Syndrome child, the emotional support to your Down Syndrome child, enhancing self-esteem of the Down Syndrome child, and giving Down Syndrome children simple homework to rely on themselves and give them confidence will reduce his/her behavioral disorders. However, emotional abuse of the Down Syndrome child, and physical and verbal bullying of the Down Syndrome child will increase his/her behavioral disorders. The study recommended that parents should involve their children who have Down syndrome in family gatherings and community activities, thank them for any small acts of kindness, and show them affectionate support, and finally, parents should ensure that their children who have Down syndrome receive appropriate education. [ABSTRACT FROM AUTHOR]

Background Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most preventable causes of intellectual disability (ID). Late initiation of thyroid hormone substitution therapy has a negative impact on intellectual abilities in CH patients. Objective To compare intelligence quotient (IQ) between children with CH who underwent early treatment among the children without CH. Methods We performed online literature searches of ScienceDirect, Pubmed, Cochrane Library, and Google Scholar. We included clinical studies that examined IQ scores in patients with earlytreated CH and without CH. Review Manager 5.4 was used to perform the meta-analysis. Results Twelve studies comparing pediatric patients with and without CH were included in this meta-analysis, for a total of 808 patients. Based on data analysis, IQ levels of verbal IQ [mean difference (MD) -9.05; (95%CI -14.51 to -3.59); (P<0.00001)], performance IQ [MD -11.70; (95%CI -17.41 to -5.99); (P<0.00001)], and total IQ [MD -10.78; (95%CI -14.03 to -7.54); (P<0.00001)]. While verbal, performance, and total IQ of the early-treated CH group were within the normal range, they were each significantly lower than those in the non-CH group. Conclusion This meta-analysis reveals that IQ scores in earlytreated CH subjects were within normal limits, but significantly lower than that of normal controls. [ABSTRACT FROM AUTHOR]

Abstract Background Previous studies have suggested that gestational weight gain (GWG) outside an optimal range increases the risks of neurodevelopmental disorders (NDDs) in offspring including autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit/hyperactivity disorder (ADHD). The sequential development of the fetal brain suggests that its vulnerability may vary depending on the timing of exposure. Therefore, we aimed to investigate the associations of not only gestational age-standardized total GWG (GWG z-scores) but also the rate of GWG (RGWG) in the second and third trimesters with risks of NDDs in offspring. Methods In this population-based cohort study, we used maternal weight data from antenatal care records collected for 57,822 children born to 53,516 mothers between 2007 and 2010 in the Stockholm Youth Cohort. Children were followed from 2 years of age to December 31, 2016. GWG z-scores and RGWG (kg/week) in the second and third trimesters were considered as continuous variables in cox regression models, clustered on maternal identification numbers. Nonlinear relationships were accommodated using restricted cubic splines with 3 knots. RGWG were also categorized according to the 2009 US Institute of Medicine (IOM) guidelines for optimal GWG. According to the IOM guidelines, the optimal rate of GWG for the second and third trimesters for underweight, normal weight, overweight, and obese categories were 0.44–0.58, 0.35–0.50, 0.23–0.33, and 0.17–0.27 kg/week, respectively. Results During a mean follow-up of 5.4 years (until children were on average 7.4 years old), 2205 (3.8%) children were diagnosed with NDDs, of which 1119 (1.9%) received a diagnosis of ASD, 1353 (2.3%) ADHD, and 270 (0.5%) ID. We observed a J-shaped association between total GWG z-score and offspring risk of NDDs, with higher total GWG (GWG z-score = 2) associated with 19% increased risk of any NDD (95% CI = 3–37%) and lower total GWG (GWG z-score = − 2) associated with 12% increased risk of any NDDs (95% CI = 2–23%), compared to the reference (GWG z-score = 0). In the second trimester, lower RGWG (0.25 kg/week) was associated with a 9% increased risk of any NDD diagnosis (95% CI = 4–15%) compared to the median of 0.57 kg/week, with no apparent relationship between higher RGWG and risk of NDDs. In the third trimester, there was no apparent association between lower RGWG and risk of NDDs, though higher RGWG (1 kg/week) was associated with a 28% increased risk of NDD diagnosis (95% CI = 16–40%), compared to the median (0.51 kg/week). When considering categorized RGWG, we found that slow weight gain in the second trimester followed by rapid weight gain in the third trimester most significantly increased the risk of ADHD (HRadjusted = 1.55, 1.13–2.13) and ID (HRadjusted = 2.53, 1.15–5.55) in offspring. The main limitations of our study are the relatively few years for which detailed GWG data were available and the relatively short follow-up for the outcomes, limiting power to detect associations and misclassifying children who receive an NDD diagnosis later in childhood. Conclusions The relationship between maternal weight gain and children’s risk of NDDs varied according to timing in pregnancy, with the greatest risks associated with slow weight gain in the second trimester and rapid weight gain in the third trimester.

For students with intellectual disability the need for effective teaching strategies in Foreign Language Learning is imperative. In recent years, the advent of Augmented Reality (AR) in Special Education has shown promising results. In the present research an AR intervention for English vocabulary instruction of three students with intellectual disability (ID) was implemented. A multiple probe across participants design was used to examine the effectiveness of an AR intervention on the students' responses regarding identified correct vocabulary items in English as a Foreign Language (EFL) in two thematic categories- food and animals. Results showed a functional relationship between the correct responses made during probe sessions and the implementation of the AR intervention for all three students. In addition, a follow up phase was conducted in order to evaluate the maintained outcomes, suggesting that there was a positive maintenance effect. Social validity was also assessed, indicating that the intervention package was practical and useful. Limitations of the present study and suggestions for future research are also discussed. [ABSTRACT FROM AUTHOR]

Background: Previous studies have suggested that gestational weight gain (GWG) outside an optimal range increases the risks of neurodevelopmental disorders (NDDs) in offspring including autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit/hyperactivity disorder (ADHD). The sequential development of the fetal brain suggests that its vulnerability may vary depending on the timing of exposure. Therefore, we aimed to investigate the associations of not only gestational age-standardized total GWG (GWG z-scores) but also the rate of GWG (RGWG) in the second and third trimesters with risks of NDDs in offspring. Methods: In this population-based cohort study, we used maternal weight data from antenatal care records collected for 57,822 children born to 53,516 mothers between 2007 and 2010 in the Stockholm Youth Cohort. Children were followed from 2 years of age to December 31, 2016. GWG z-scores and RGWG (kg/week) in the second and third trimesters were considered as continuous variables in cox regression models, clustered on maternal identification numbers. Nonlinear relationships were accommodated using restricted cubic splines with 3 knots. RGWG were also categorized according to the 2009 US Institute of Medicine (IOM) guidelines for optimal GWG. According to the IOM guidelines, the optimal rate of GWG for the second and third trimesters for underweight, normal weight, overweight, and obese categories were 0.44–0.58, 0.35–0.50, 0.23–0.33, and 0.17–0.27 kg/week, respectively. Results: During a mean follow-up of 5.4 years (until children were on average 7.4 years old), 2205 (3.8%) children were diagnosed with NDDs, of which 1119 (1.9%) received a diagnosis of ASD, 1353 (2.3%) ADHD, and 270 (0.5%) ID. We observed a J-shaped association between total GWG z-score and offspring risk of NDDs, with higher total GWG (GWG z-score = 2) associated with 19% increased risk of any NDD (95% CI = 3–37%) and lower total GWG (GWG z-score = − 2) associated with 12% increased risk of any NDDs (95% CI = 2–23%), compared to the reference (GWG z-score = 0). In the second trimester, lower RGWG (0.25 kg/week) was associated with a 9% increased risk of any NDD diagnosis (95% CI = 4–15%) compared to the median of 0.57 kg/week, with no apparent relationship between higher RGWG and risk of NDDs. In the third trimester, there was no apparent association between lower RGWG and risk of NDDs, though higher RGWG (1 kg/week) was associated with a 28% increased risk of NDD diagnosis (95% CI = 16–40%), compared to the median (0.51 kg/week). When considering categorized RGWG, we found that slow weight gain in the second trimester followed by rapid weight gain in the third trimester most significantly increased the risk of ADHD (HRadjusted = 1.55, 1.13–2.13) and ID (HRadjusted = 2.53, 1.15–5.55) in offspring. The main limitations of our study are the relatively few years for which detailed GWG data were available and the relatively short follow-up for the outcomes, limiting power to detect associations and misclassifying children who receive an NDD diagnosis later in childhood. Conclusions: The relationship between maternal weight gain and children's risk of NDDs varied according to timing in pregnancy, with the greatest risks associated with slow weight gain in the second trimester and rapid weight gain in the third trimester. [ABSTRACT FROM AUTHOR]

NEUROD2 , encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been identified in eight patients (from six unrelated families) with epileptic encephalopathy and developmental delay. We describe a child with initial clinical suspicion of Rett/Rett-like syndrome, in whom exome sequencing detected a novel de novo variant (c.388G > A, p.Glu130Lys) in NEUROD2. Interestingly, a missense change affecting the same codon, c.388G > C (p.Glu130Gln), was previously identified in other two patients. Our results suggest that Glu130 might represent a potential mutational hotspot of NEUROD2. Furthermore, the clinical findings (especially the absence of clinically overt seizures) strengthen the NEUROD2- phenotypic spectrum, implying that developmental delay may also manifest isolatedly. We suggest inclusion of NEUROD2 -associated developmental and epileptic encephalopathies (DEEs) in the differential diagnosis of atypical Rett syndrome as well as gene panels related to autism spectrum disorder. [ABSTRACT FROM AUTHOR]

Abstract Background Intellectual disability is characterized by impairments in adaptive behavior and cognitive functioning manifested during the developmental period. Since disabilities are heterogeneous, variant analysis can help us confirm and accurately diagnose children with intellectual disabilities. Some papers reported that bi-allelic variants of the NSUN2 gene caused a group of neurological disorders, including non-syndromic autosomal recessive intellectual disability (NS-ARID), Dubowitz syndrome, and familial restrictive cardiomyopathy 1 (RCM1). We report on a consanguineous family with three siblings diagnosed with intellectual disability. Case presentation The 7-year-old female was referred to Ali-Asghar hospital, Zahedan, Iran, with clinical manifestations comprising moderate intellectual disability, ptosis, long face, and short stature. Chromosome banding, metabolic testing, and magnetic resonance imaging examinations revealed no abnormalities. Accordingly, other affected siblings born of the same parents were considered. Whole-exome sequencing (WES) was conducted on the sufferer to consider NS-ARID variants. Findings identified a variant with uncertain significance (NM_017755.6: c.593 T > G) in the NSUN2 gene in the proband. This variant was confirmed through Sanger sequencing of the affected and unaffected family members. Besides, the computational results showed that the L198R exchange could change the interaction between wild-type and other residues in the protein. The affected patients with NS-ARID had similar clinical characteristics and genetic abnormalities. Conclusion Taken together, we described the variant in three Iranian siblings; further expanding of the other variants involved in the disease will be evident by using high-throughput sequencing technologies.

There is a gap in tools specifically designed for assessing Intellectual Disability (ID) in Indian settings. To address this, the NIMHANS intellectual disability screening instrument (NID-Screener) was developed by the Department of Child and Adolescent Psychiatry, National Institute of Mental Health and Neuro Sciences. Ten non experts/language and ten experts rated face and content validity of NID-Screener respectively. Content validity was measured by Content Validity Ratio, Content Validity Indices (I-CVI, S-CVI) and Modified Kappa statistics. Construct validity was calculated by performing Exploratory Factor Analysis(EFA) on responses from 275 parent(s)/guardian(s) of children and adolescents (6–17 years). Criterion Validity was tested against Brief Intellectual Disability Scale (BIDS) and Clinical Diagnosis by Child and Adolescent Psychiatrist. Kappa Statistics was used to calculate inter – method and inter-Rater Reliability. Cronbach's alpha was used to assess Internal Consistency. This study was approved by NIMHANS ethics committee. Findings revealed that NID-Screener has good face and content validity (S-CVI/Average = 0.917). Criterion Validity was excellent (Kappa Value=0.862, p-value<0.001) when compared with BIDS. Sensitivity and specificity were found to be 84.7 %, 89 % respectively against Clinical Diagnosis. On EFA, only one underlying factor with Eigen value > 1 was identified (55.8 % of total variance). Kappa value was found to be 0.971 and 0.942 for inter- rater and inter –method reliability respectively(p-value<0.001). NID-Screener has good internal consistency [Cronbach's alpha = 0.841]. NID-Screener is a reliable and valid tool for screening ID among children and adolescents in India, facilitating its early detection through diagnostic assessments and subsequent interventions. • NID-Screener is a reliable and valid tool for screening ID among children and adolescents in India. • It shows good face, content validity and excellent criterion validity against BIDS (Kappa value = 0.862, p-value<0.001). • Sensitivity and specificity were found to be 84.7 %, 89 % respectively against clinical diagnosis. • One underlying factor was identified for construct validity. NID-Screener has good internal consistency (Cronbach's α= 0.841) • Almost perfect agreement for inter- rater, inter–method reliability (Kappa value = 0.971, 0.942 respectively, p-value<0.001). [ABSTRACT FROM AUTHOR]

Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare co-inheritance of OCA1B and ID due to a novel TYR gene variant and chromosomal copy number variations. Methods We have done a study on three siblings (2 males and 1 female) of a family where all of them presented with hypopigmented skin, hair and eyes. The male children and their father was affected with ID. Targeted exome sequencing and multiplex ligation-dependent probe amplification analysis were carried out to identify the OCA1B and ID associated genomic changes. Further Array-CGH was performed using SurePrint G3 Human CGH + SNP, 8*60 K array. Results A rare homozygous deletion of exon 3 in TYR gene causing OCA1B was identified in all three children. The parents were found to be heterozygous carriers. The Array-CGH analysis revealed paternally inherited heterozygous deletion(1.9 MB) of 15q11.1-> 15q11.2 region in all three children. Additionally, paternally inherited heterozygous deletion(2.6 MB)of 10q23.2-> 10q23.31 region was identified in the first male child; this may be associated with ID as the father and the child both presented with ID. While the 2nd male child had a denovo duplication of 13q31.1-> 13q31.3 chromosomal region. Conclusion A rare homozygous TYR gene exon 3 deletion in the present study is the cause of OCA1B in all three children, and the additional copy number variations are associated with the ID. The study highlights the importance of combinational genetic approaches for diagnosing two different co-inherited disorders (OCA and ID). Hence, OCA cases with additional clinical presentation need to be studied in-depth forthe appropriate management of the disease.

Speech plays an imperative part in friendly and verbal correspondence for people. 'Verbal correspondence' signifies communicating thoughts, sentiments and considerations, and 'speech' is a medium to convey data, which isn't limited to explanation content. Further, it reaches out to data about the speaker's orientation, age and reason and a few different elements. The primary parts of a familiar language are voice, explanation and familiarity. Voice is the sound created by vocal strings and breathing; explanation alludes to uttering a right strong; familiarity is the beat of speech, for example, how to convey a familiar speech. These three parts are interrelated and assume a fundamental part in the creation of an expressive dialogue. Correspondence errors debilitate the strategy of starting a mental turn of events and future stages. There are a few neurodevelopmental messes like a chemical imbalance, down disorder, which straightforwardly influence speech advancement. Scholarly incapacity is one of the neurodevelopmental infections classified by language issues, strange social way of behaving, less interest in correspondence, and fanatical and redundant way of behaving. Beginning mental advancement is straightforwardly subject to correspondence abilities. Neurodevelopment problems like down condition, chemical imbalance and so on, can straightforwardly influence speech and language improvement at the beginning and future stages. Scholarly inability is likewise a neurodevelopmental problem that causes speech and language impedances, strange social ways of behaving and less interest in correspondence. It is to some degree an over the top way of behaving. In this review, an intensive audit has been introduced to illuminate responsive and expressive correspondence attributes in people with scholarly incapacity. [ABSTRACT FROM AUTHOR]

Purpose : The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present with clinical symptoms suggestive of CP. Precision medicine practices are currently a standard of care, and Next-Generation-Sequencing (NGS) tools are used for the purpose of diagnosis and management. We describe the diagnostic yield and impact on management of NGS comparing a cohort of 102 children and 37 adults with CP, referred to two tertiary care centres between 2015 and 2020 (adult cohort) and 2017–2020 (pediatric cohort) respectively. Principal results : In the adult cohort, 28 patients had a positive genetic diagnosis, giving a yield of 75.6%. Their age varied between 18 and 59 years, with a median of 28 years. Out of the positive diagnoses, 12 were consistent with an inborn error of metabolism and in 9 patients (32.1%) some form of treatment or management guideline was recommended. In the pediatric cohort 21 patients had a positive genetic diagnosis and 22 results are still pending, giving a yield of 32.8%. Age at diagnosis ranged between 18 months and 12 years. In 15 patients (71.4%) there was some form of management recommendation. All families benefited from genetic counseling. Major conclusions : Given the combined high yield of positive genetic diagnosis in pediatric and adult cases presenting with symptoms of Cerebral Palsy, and the more readily available Next Generation Sequencing testing in major academic centres, we recommend that either a referral to a pediatric or adult neurometabolic centre to be made, or genetic testing to be initiated where this is available. • Genetic etiology of Cerebral Palsy is heterogeneous and it has not been investigated in depth in the adult population. • We present the genetic results in a cohort of adult patients diagnosed with Cerebral Palsy in childhood. • We compare clinical features in presentation and the yield of positive diagnosis between adults and children. [ABSTRACT FROM AUTHOR]

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, p<.001). In patients who were treated with bisphosphonates for more than one year during follow-up, TBS did not change significantly (p=.093). In multivariate analyses, no significant associations were found between TBS at baseline and incident fractures during follow-up.Conclusion: 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. [ABSTRACT FROM AUTHOR]

Emotions influence processes of learning and thinking in all people. However, there is a lack of studies in the field of emotion research including people with intellectual disabilities (ID) addressing the existing diversity. The present study investigates the emotional competence of people with ID (N = 32). The first aim was to assess the emotional development using the Scale of Emotional Development (SEED). Based on these insights, the second objective was to replicate existing findings, validating the emotional reaction of people with ID to pictures of the International Affective Picture System (IAPS) based on self-reports. In an additional pilot-like analysis, the third aim was to investigate if these self-reported emotional reactions match the emotions expressed in their faces using the automated and video-based facial expression analysis software 'Affectiva (Affdex SDK)'. In the present study, the self-reported emotional reactions of participants with ID were in line with previous research. In addition, the present study shows the general potential of this innovative approach of using and applying commercially available automated emotion recognition software for the field of special needs and social science. [ABSTRACT FROM AUTHOR]

La littérature sur la gestion des troubles graves du comportement (TGC), chez les patients présentant une déficience intellectuelle (DI) et/ou des troubles du spectre autistique (TSA), suggère que l'environnement de travail des professionnels de santé est éprouvant pour prodiguer les soins dans des conditions de sécurité suffisante pour eux et les patients présentant une DI/TSA. Cet article rapporte les expériences morales des professionnels de santé concernant leur utilisation des alternatives à la contention dans la prise en charge des patients avec DI/TSA. Une ethnographie herméneutique participative a été menée. Le travail de terrain a été réalisé en 2017, dans une unité de soins canadienne dans le cadre d'un programme destiné aux personnes avec DI/TSA présentant des comorbidités psychiatriques. Dans le cadre de cette recherche qualitative, 16 membres du personnel se sont portés volontaires pour réaliser des entretiens. L'étude met en évidence la vulnérabilité des professionnels de santé induite par les impacts des TGC et la détresse morale associée à l'utilisation de la contention ou à l'exclusion des personnes DI/TSA. Deux obstacles aux alternatives de contention sont identifiés : la tension entre soins et contention, et le manque d'approches inclusives. Deux facteurs ont soutenu l'utilisation d'alternatives à la contention : la protection des membres du personnel et leur engagement personnel dans les relations de soins. Dans ce contexte particulier de situations complexes en DI/TSA, deux conceptions opposées de l'autonomie ont émergé. D'une part, une conception rationnelle de l'autonomie qui est contre-productif au maintien et au développement des alternatives à la contention. D'autre part, une autonomie relationnelle qui prend en compte la vulnérabilité des professionnels de santé comme un repère pour réduire efficacement l'usage de la contention. Enfin, le concept de vulnérabilité partagée est proposé pour soutenir les soins centrés sur le patient et les approches alternatives aux contentions. Dans cette perspective, le souci de soi que manifeste les professionnels de santé favorise le respect mutuel auprès des patients avec DI/TSA. The literature on the management of severe behavioral disorders (SBD) in patients with intellectual disabilities (ID) and/or autism spectrum disorders (ASDs) suggests that the work environment of healthcare professionals is challenging in order to provide care in conditions of sufficient safety for themselves and their patients with ID/ASD. This article reports the moral experiences of healthcare professionals regarding their use of alternatives to restraint in the care of patients with ID/ASD. A participatory hermeneutic ethnography was conducted. The fieldwork was performed in 2017 in a Canadian care unit in a program for patient with ID/ASD and psychiatric comorbidities. As part of this qualitative research, 16 staff members volunteered to conduct interviews. The study highlights health workers' vulnerability brought on by the impacts of SBDs and the moral distress associated with the use of restraints and the exclusion of patients with ID/ASD. Two barriers to restraint alternatives are identified: the tension between care and restraint and the lack of inclusive approaches. Two factors supported the use of alternatives to restraint: protection of staff members and their personal commitment in care relationships. In this particular context of complex ID/ASD situations, two opposing conceptions of autonomy emerged. On the one hand, a rational conception of autonomy that is counterproductive to the maintenance and development of alternatives to restraint. On the other hand, a relational autonomy that takes into account the vulnerability of health care professionals as a benchmark to effectively reduce the use of restraints. Finally, the concept of shared vulnerability is proposed to support patient-centered care and alternative approaches to restraint. In this perspective, the self-care shown by health professionals promotes mutual respect with patients with ID/ASD. [ABSTRACT FROM AUTHOR]

Background: A national birth cohort study was used to investigate whether high-risk family factors at 1.5-year-olds can increase the risk of attention-deficit/hyperactivity disorder (ADHD) diagnosis when children reach 5.5 years. The pathway relationship of high-risk family factors, children's developmental conditions, risk of autism spectrum disorder (ASD), and diagnosis of intellectual disability (ID), learning disability (LD), and ASD was also investigated. Methods: The 1.5-, 3- and 5.5-year-old Taiwan Birth Cohort Study (TBCS) dataset was used (N = 19,185). The high-risk familial factor was measured using five questions assessing whether parents are currently unmarried, unemployed, do not have any social insurance, perceive a "very heavy" economic childcare burden, and at least one of the parents has a disability certification. Developmental conditions were assessed using the Taiwan Birth Cohort Study--Developmental Instrument (TBCS-DI), and ASD risk was measured using the Modified Checklist of Autism in Toddlers. Data on ADHD, ID, LD, and ASD diagnoses were collected at age 5.5. The odds ratio model investigated whether children from families with high-risk factors at 1.5-years were at increased risk of ADHD, ID, LD, or ASD diagnosis at 5.5-years, compared to those children from families without such risks. Structural equation modeling investigated the logistic regression pathway relationship of high-risk familial characteristics, children's developmental conditions, autism screening, and diagnosis. Results: In the national birth cohort dataset of 19,185 children, 2070 (10.8%) met at least one of the high-risk familial factors. Children who met one high- risk familial factor had a 1.21-fold increased risk for ADHD diagnosis, 1.36-fold increased risk for LD diagnosis, and 1.80-fold increased risk for ASD diagnosis, compared to children from families without risks. High-risk familial factors directly increased the risk of ADHD and ID diagnosis, and indirectly increased the risk of ADHD, ID, LD, and ASD diagnosis through the mediating factor of children's development. Conclusions: Children who met more high-risk familial characteristics were at higher risk of ADHD, ID, LD, and ASD diagnosis. Development at three years was predictive of diagnosis at 5.5 years. Thus, developmental screening at age three is vital for interventions. Preventive, family-focused, and/or child-rearing services for at-risk families are important for improving outcomes for these children and their families. [ABSTRACT FROM AUTHOR]

We report a case of penile strangulation by a plastic band with an unknown time of onset. A 61-year-old man was brought to the emergency department with complaints of painful edematous swelling of the penis caused by a plastic band. The patient had an intellectual disability and, thus, difficulties were associated with obtaining a detailed medical history, including the time of onset. Penile strangulation was released by surgical scissors in the emergency room. The patient made a satisfactory recovery seven days after admission, and no major complications were observed., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Sato et al.)

The construct of support needs has become a key aspect for the diagnostics, classification, and interventional management of autism spectrum disorders (ASDs). However, instruments specifically designed to assess support needs in this population are not available. Currently, the Supports Intensity Scale for Children (SIS-C), which could be administered to assess students with any type of intellectual disability (ID), is the only valid tool able to assess support needs in Spain. Our aim was to verify whether the SIS-C is useful for assessing the support needs of students with ASD, regardless of whether or not they present ID. The participants were subdivided into two groups. One group included students with ASD and ID (n = 248), and the other comprised participants with ASD without an ID (n = 44). The results of the two groups were compared with those reported in the original validation sample of the SIS-C, which involved participants with ID without ASD (n = 566). The results showed that this scale could be useful for assessing support needs in the three subgroups, but it appeared that different standardized norms based on the characteristics of each specific population would be appropriate.

Objectives: Aminoacidopathies are inborn errors of metabolism (IEMs) that cause intellectual disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed earlier in life. The focus of this study was the screening of aminoacidopathies in a cohort of patients suspected for IEMs. Methods: Blood samples from healthy (IQ > 90; n = 391) and intellectually disabled (IQ < 70; n = 409) children (suspected for IEMs) were collected from different areas of Northern Punjab, Pakistan. An analytical HPLC assay was used for the screening of plasma amino acids. Results: All the samples (n = 800) were analyzed on HPLC and forty-three out of 409 patient samples showed abnormal amino acid profiles mainly in the levels of glutamic acid, ornithine and methionine. Plasma concentration (Mean ± SD ng/mL) were significantly high in 40 patients for glutamic acid (patients: 165 ± 38 vs. controls: 57 ± 8, p < 0.00001) and ornithine (patients: 3177 ± 937 vs. controls: 1361 ± 91, p < 0.0001). Moreover, 3 patients showed abnormally high (53.3 ± 8.6 ng/mL) plasma levels of methionine. Conclusion: In conclusion, biochemical analysis of samples from such patients at the metabolites level could reveal the underlying diseases which could be confirmed through advanced biochemical and genetic analyses. Thus, treatment to some of such patients could be offered. Thus burden of intellectual disability caused by such rare metabolic diseases could be reduced from the target populations. [ABSTRACT FROM AUTHOR]

The current study focused on people with intellectual disability (ID), who have unique disadvantages that place them at greater risk for negative outcomes due to COVID-19. The study goals are three-fold: (a) To examine whether differences in distress factors (loneliness and stress) would be found between adults with ID who used the Zoom application, and those who did not use Zoom during the pandemic; (b) To examine whether differences in psychological and coping resources (psychological capital), and practical-technological resources (attitudes and motivation to use information communication technology) would be found between the groups; (c) To examine the contribution of background variables (gender, type of residence, Zoom use), distress factors and psychological and practical technological coping resources on the motivation to use technology. The sample included 35 adults with ID (MCA = 40.06, SD = 11.02). Of these, 57% learned to use the Zoom application during the COVID-19 pandemic (N = 20), and 47% did not (N = 15). Participants answered seven questionnaires examining distress factors and psychological and technological resources. Both groups exhibited distress factors. However, the Zoom users demonstrated higher scores in hope and motivation to use technology. Regression analysis indicated that the resilience and attitudes toward technology among the Zoom users contributed to the explained variance of motivation to use technology. In light of the higher coping resources among Zoom users, we may carefully say that using Zoom might increase the independence of individuals with ID in learning, develop their communications possibilities, and help them to cope better in distress situations. [ABSTRACT FROM AUTHOR]

The present study is carried out to understand the quality of life (QoL) among mothers having children with different types of neurodevelopmental disorders (NDD). The participants were randomly chosen one consisted of 120 mothers, 30 each having children with intellectual disability (ID), specific learning disability (SLD), attention deficit hyperactive disorder (ADHD) and autism spectrum disorder (ASD). Data are collected using WHOQOL-BREF. The analysis of data using one-way ANOVA revealed that mothers having children with ID and ASD report significantly more impairment in four domains (general health, physical health, environmental health and overall health) of QoL than mothers having children with ADHD and SLD. [ABSTRACT FROM AUTHOR]

In this paper, we are discussing the question of particular attitudes expressed by the professionals (teachers and therapists) in the context of sexual abuse of people (including children) with intellectual disabilities (ID) which we identify as tacit un-knowledge. Drawing from the concept of tacit knowledge introduced by Michael Polanyi we are looking closely into some sort of professional passivity and indulgence in reacting to the sexual abuse of people with ID and lack of adequate professional education and training on the other hand. These observations led us to formulate a Polanyi-inspired notion of un-knowledge expressed as a culture-based response to directly or indirectly reported incidents of sexual abuse of people with ID. Data discussed in this paper is a part of a broader research project on sexual abuse of people with disabilities in the narratives of teachers and therapists conducted by one of the authors. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this article. [ABSTRACT FROM AUTHOR]

Individuals with intellectual disability who suffer from comorbid mental health problems are likely to experience difficulties in socialising. Deficits in social skills are also associated with challenging behaviours and self-injury. This paper presents global evidence from a systematic review of literature on such issues as ‘interventions’; ‘social skills development’, and ‘individuals with intellectual disability’. A thorough search of various bibliographic databases identified 1 124 academic papers. Ten papers met the inclusion criteria for in-depth analysis concerning the use of interventions to develop social skills among individuals with intellectual disability. The study revealed that the social skills of individuals with intellectual disability had been fostered using different strategies, such as classroom-based intervention, emotional intelligence training, use of a peer network intervention, computer games of emotion regulation, and puppet play therapy. Furthermore, the findings suggest that various aspects like communication, bridging the gap in social skills deficits, emotional recognition and regulation, and adaptive behaviour were fostered using the identified intervention strategy. This review revealed that social skills interventions appeared modestly effective but may not be generalisable to school settings or self-reported social behaviour for individuals with intellectual disability. It is also necessary to increase the sample size in future studies to draw generalisable conclusions.

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2 , and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5 -associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5. [ABSTRACT FROM AUTHOR]

Intellectual disability (ID) is characterized by deficits in conceptual, social and practical domains. ID can be caused by both genetic defects and environmental factors and is extremely heterogeneous, which complicates the diagnosis as well as the deciphering of the underlying pathways. Multiple scientific breakthroughs during the past decades have enabled the development of novel ID models. The advent of induced pluripotent stem cells (iPSCs) enables the study of patient-derived human neurons in 2D or in 3D organoids during development. Gene-editing tools, such as CRISPR/Cas9, provide isogenic controls and opportunities to design personalized gene therapies. In practice this has contributed significantly to the understanding of ID and opened doors to identify novel therapeutic targets. Despite these advances, a number of areas of improvement remain for which novel technologies might entail a solution in the near future. The purpose of this review is to provide an overview of the existing literature on scientific breakthroughs that have been advancing the way ID can be studied in the human brain. The here described human brain models for ID have the potential to accelerate the identification of underlying pathophysiological mechanisms and the development of therapies. [ABSTRACT FROM AUTHOR]

Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by a broad spectrum of neurodevelopmental disorders. It is caused by pathogenic CHD2 variants. While only a few pathogenic CHD2 variants have been reported with detailed clinical phenotypes, most of which lack molecular analysis. In this study, next-generation sequencing (NGS) was performed to identify likely pathogenic CHD2 variants in patients with epilepsy. Three likely pathogenic variants were finally identified in different patients. The seizure onset ages were from two years to six years. Patients 1 and 2 had developmental delays before epilepsy, while patient 3 had intellectual regression after the first seizure onset. The observed seizures were myoclonic, febrile, and generalized tonic-clonic, which had been controlled by different combinations of antiepileptic drugs. Two de novo (c.1809_1809+1delGGinsTT, p.? and c.3455+2_3455+3insTG, p.?) and one maternal (c.3783G>A, p.W1261*) variant were identified, which were all predicted to be pathogenic/likely pathogenic. Molecular analysis was performed in patient 1, and we detected aberrantly spliced products, proving the pathogenicity of this CHD2 variant. New cases with novel variants, along with a detailed clinical and molecular analysis, are important for a better understanding of CHD2-related epileptic encephalopathy. [ABSTRACT FROM AUTHOR]

Background: Intellectual disability is characterized by impairments in adaptive behavior and cognitive functioning manifested during the developmental period. Since disabilities are heterogeneous, variant analysis can help us confirm and accurately diagnose children with intellectual disabilities. Some papers reported that bi-allelic variants of the NSUN2 gene caused a group of neurological disorders, including non-syndromic autosomal recessive intellectual disability (NS-ARID), Dubowitz syndrome, and familial restrictive cardiomyopathy 1 (RCM1). We report on a consanguineous family with three siblings diagnosed with intellectual disability. Case presentation: The 7-year-old female was referred to Ali-Asghar hospital, Zahedan, Iran, with clinical manifestations comprising moderate intellectual disability, ptosis, long face, and short stature. Chromosome banding, metabolic testing, and magnetic resonance imaging examinations revealed no abnormalities. Accordingly, other affected siblings born of the same parents were considered. Whole-exome sequencing (WES) was conducted on the sufferer to consider NS-ARID variants. Findings identified a variant with uncertain significance (NM_017755.6: c.593 T > G) in the NSUN2 gene in the proband. This variant was confirmed through Sanger sequencing of the affected and unaffected family members. Besides, the computational results showed that the L198R exchange could change the interaction between wild-type and other residues in the protein. The affected patients with NS-ARID had similar clinical characteristics and genetic abnormalities. Conclusion: Taken together, we described the variant in three Iranian siblings; further expanding of the other variants involved in the disease will be evident by using high-throughput sequencing technologies. [ABSTRACT FROM AUTHOR]

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2, and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5-associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5.

Down syndrome (DS) is characterized by chronic neuroinflammation, peripheral inflammation, astrogliosis, imbalanced excitatory/inhibitory neuronal function, and cognitive deficits in both humans and mouse models. Suppression of inflammation has been proposed as a therapeutic approach to treating DS co-morbidities, including intellectual disability (DS/ID). Conversely, we discovered previously that treatment with the innate immune system stimulating cytokine granulocyte-macrophage colony-stimulating factor (GM-CSF), which has both pro- and anti-inflammatory activities, improved cognition and reduced brain pathology in a mouse model of Alzheimer's disease (AD), another inflammatory disorder, and improved cognition and reduced biomarkers of brain pathology in a phase II trial of humans with mild-to-moderate AD. To investigate the effects of GM-CSF treatment on DS/ID in the absence of AD, we assessed behavior and brain pathology in 12–14 month-old DS mice (Dp[16]1Yey) and their wild-type (WT) littermates, neither of which develop amyloid, and found that subcutaneous GM-CSF treatment (5 μg/day, five days/week, for five weeks) improved performance in the radial arm water maze in both Dp16 and WT mice compared to placebo. Dp16 mice also showed abnormal astrocyte morphology, increased percent area of GFAP staining in the hippocampus, clustering of astrocytes in the hippocampus, and reduced numbers of calretinin-positive interneurons in the entorhinal cortex and subiculum, and all of these brain pathologies were improved by GM-CSF treatment. These findings suggest that stimulating and/or modulating inflammation and the innate immune system with GM-CSF treatment may enhance cognition in both people with DS/ID and in the typical aging population.

The proper connection between the pre- and post-synaptic nervous cells depends on any element constituting the synapse: the pre- and post-synaptic membranes, the synaptic cleft, and the surrounding glial cells and extracellular matrix. An alteration of the mechanisms regulating the physiological synergy among these synaptic components is defined as "synaptopathy." Mutations in the genes encoding for proteins involved in neuronal transmission are associated with several neuropsychiatric disorders, but only some of them are associated with Developmental and Epileptic Encephalopathies (DEEs). These conditions include a heterogeneous group of epilepsy syndromes associated with cognitive disturbances/intellectual disability, autistic features, and movement disorders. This review aims to elucidate the pathogenesis of these conditions, focusing on mechanisms affecting the neuronal pre-synaptic terminal and its role in the onset of DEEs, including potential therapeutic approaches. [ABSTRACT FROM AUTHOR]

Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay and intellectual disability (ID), associated with various cerebral and extra‐cerebral malformations. Invdupdel(8p) is the most common recurrent chromosomal rearrangement in ID patients with anomalies of the corpus callosum (AnCC). Only a minority of invdupdel(8p) cases reported in the literature to date had both brain cerebral imaging and chromosomal microarray (CMA) with precise breakpoints of the rearrangements, making genotype–phenotype correlation studies for AnCC difficult. In this study, we report the clinical, radiological, and molecular data from 36 new invdupdel(8p) cases including three fetuses and five individuals from the same family, with breakpoints characterized by CMA. Among those, 97% (n = 32/33) of patients presented with mild to severe developmental delay/ID and 34% had seizures with mean age of onset of 3.9 years (2 months–9 years). Moreover, out of the 24 patients with brain MRI and 3 fetuses with neuropathology analysis, 63% (n = 17/27) had AnCC. We review additional data from 99 previously published patients with invdupdel(8p) and compare data of 17 patients from the literature with both CMA analysis and brain imaging to refine genotype–phenotype correlations for AnCC. This led us to refine a region of 5.1 Mb common to duplications of patients with AnCC and discuss potential candidate genes within this region. [ABSTRACT FROM AUTHOR]

Children with neurodevelopmental disorders, such as attention deficit hyperactivity disorder (ADHD) and intellectual disability (ID), need early intervention and continuous treatment. We aimed to investigate the feasibility and acceptability of mobile application-based interventions in children with ADHD and ID in supporting attention and cognitive function. Twenty-six children with ADHD and/or ID with attention and cognition difficulties were recruited. Participants completed a 12-week mobile application-based intervention. To assess whether digital intervention improved attention and cognitive function, we used the Comprehensive Attention Test (CAT), Cambridge Neuropsychological Tests Automated Battery (CANTAB), and electroencephalography (EEG) to examine direct changes in children's behavior and neural activity. Clinicians and parents assessed changes using the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2), Korean version of the ADHD Rating Scale (K-ARS), Clinical Global Impression-Improvement Scale, and parental questionnaires. The intervention induced changes in neural activities on EEG and behavior but there were no significant changes in CAT and CANTAB results. Relative theta and alpha power were significantly lower post-intervention in the eyes-open (EO) condition of EEG recording and these changes were mainly observed in the frontal regions of the brain. Parental reports using the BRIEF-2 and K-ARS noted significant improvements in executive function, attention, and hyperactivity-impulsivity. In addition, the clinical impression improved in 60% of participants. These results provide evidence that a mobile application-based intervention has the benefit of supporting children with ADHD and/or ID. Digital intervention could change neural activity and improve children's attention and cognitive function. Given our findings, we suggested that mobile application-based digital therapeutics may have great potential for helping children with neurodevelopmental disorders who need continuous treatment. [ABSTRACT FROM AUTHOR]

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare co-inheritance of OCA1B and ID due to a novel TYR gene variant and chromosomal copy number variations. Methods: We have done a study on three siblings (2 males and 1 female) of a family where all of them presented with hypopigmented skin, hair and eyes. The male children and their father was affected with ID. Targeted exome sequencing and multiplex ligation-dependent probe amplification analysis were carried out to identify the OCA1B and ID associated genomic changes. Further Array-CGH was performed using SurePrint G3 Human CGH + SNP, 8*60 K array. Results: A rare homozygous deletion of exon 3 in TYR gene causing OCA1B was identified in all three children. The parents were found to be heterozygous carriers. The Array-CGH analysis revealed paternally inherited heterozygous deletion (1.9 MB) of 15q11.1-> 15q11.2 region in all three children. Additionally, paternally inherited heterozygous deletion (2.6 MB) of 10q23.2-> 10q23.31 region was identified in the first male child; this may be associated with ID as the father and the child both presented with ID. While the 2nd male child had a denovo duplication of 13q31.1-> 13q31.3 chromosomal region. Conclusion: A rare homozygous TYR gene exon 3 deletion in the present study is the cause of OCA1B in all three children, and the additional copy number variations are associated with the ID. The study highlights the importance of combinational genetic approaches for diagnosing two different co-inherited disorders (OCA and ID). Hence, OCA cases with additional clinical presentation need to be studied in-depth for the appropriate management of the disease. [ABSTRACT FROM AUTHOR]

The establishment of menstrual hygiene, specifically among the mentally disabled females, is one of the most critical concerns posing challenges for the individual, family and caretaker. Although the performance of hysterectomy among females with intellectual disabilities (ID) is now trending, but it has given rise to many ethical questions. Therefore, the study aimed to address the ethical dilemmas associated with hysterectomy among ID females, taking reference from a case of 19-year-old female, unable to practice menstrual hygiene.

Objectives: The present research aimed to determine the effect of time-use training on the quality of time management in the mothers of girls with Intellectual Disability (ID) attending special schools. Methods: This was a quasi-experimental study with a control group design. In total, 80 mothers (40 mothers in the intervention group & 40 mothers in the control group) of children with ID (age range: 6-13 years) were studied. The study participants were selected by cluster sampling method. The required data were collected using a demographic data questionnaire and the Mothers’ Time Use Questionnaire (MTUQ). A time management training program was provided in a one-day workshop for the intervention group. The obtained data were analyzed in SPSS using Independent Samples t-test, Paired Samples t-test, and Chi-squared test. Results: After the intervention period, the quality of time management of the mothers in the intervention group significantly increased, compared to the controls (P