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1.
Intellectual disability in paediatric patients with genetic muscle diseases.
Specht, S, Straub, V
Neuromuscular disorders : NMD. 2021;(10):988-997
Abstract
The differential diagnosis of genetic muscle disease has become increasingly difficult due to the rapid progress in genetic medicine in recent years. Where classifications based on the clinical picture were attributed to one gene only a few years ago, today we know that a variety of clinical presentations can result from the same mutation and, conversely, various genes are associated with a similar phenotype. A significant consideration in assessing a patient with muscle weakness is the presence or absence of intellectual disability, thus narrowing the differential diagnostic approach in any child with an as yet undiagnosed muscle disease. Intellectual disability in neuromuscular diseases is often associated with behavioural disorders and may be correlated with abnormal brain imaging. Conversely, brain involvement can sometimes be seen without intellectual disability, but may be associated with an epilepsy risk and is helpful for the differential diagnosis. This review focuses on the three most common causes of paediatric muscle diseases with intellectual disability, dystrophinopathies, myotonic dystrophy type 1 and dystroglycanopathies. It also summarises differential diagnostic considerations when assessing a child with a genetic muscle disease and intellectual disability. The recent scientific literature on this topic is reviewed, the frequency of intellectual disability assessed, and specific clinical features are described. Where available, data on disease onset, progression and serum creatine kinase levels are presented and the pattern of muscle involvement described in an algorithm. Central nervous involvement and brain imaging analysis was reviewed and included.
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2.
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.
Hobbs, MM, Wolters, WC, Rayapati, AO
Journal of psychiatric practice. 2020;(1):58-62
Abstract
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. Its common features include optic atrophy and/or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, hypotonia, and thinning of the corpus callosum. Mitochondrial involvement has also been described with BBSOAS. Currently, 31 cases of BBSOAS have been described in the literature. Here we report a case of undiagnosed BBSOAS presenting as psychosis in a 32-year-old man with a history of bilateral optic nerve atrophy, intellectual disability, epilepsy, and mitochondrial complex I abnormality on muscle biopsy. Whole-genome sequencing identified a heterozygous de novo nonsense mutation in the NR2F1 gene [c.253 G>T (guanine to thymine mutation in coding position 253) in exon 1, p.E85X variant (GAG>TAG) (glutamic acid to stop codon mutation; protein truncated to 85 amino acids)]. A pathogenic nonsense mutation has not previously been reported in the literature in association with BBSOAS and represents an expansion of clinically relevant variants. Psychosis has also not been previously reported in this syndrome and may represent a phenotypic expansion of BBSOAS, a manifestation of prolonged disease, or a result of disease management.
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3.
One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
Yakubov, R, Ayman, A, Kremer, AK, van den Akker, M
Journal of medical case reports. 2019;(1):386
Abstract
BACKGROUND It is not uncommon that an infant with a disease of unknown etiology is presented to a physician. Facial dysmorphic features lead to a different diagnosis. It is a challenge to link the presentation to the newfound diagnosis. CASE PRESENTATION A 37-day-old Yemenite Jewish girl was presented to our institution with a clinical picture of pseudohypoaldosteronism due to abnormal facial features and a psychomotor developmental delay. Further investigation led to the diagnosis of CDK13-related disorder. According to the literature, CDK13 has a key role in the cell cycle, but no interference with the aldosterone signaling pathway or electrolyte balance was described. No mutations in the previously described gene NR3C2 (cytogenetic location 4q31.23), encoding the mineralocorticoid receptor, were found. Although the clinical presentation corresponded to pseudohypoaldosteronism type 1, we could not genetically confirm this. CONCLUSIONS Probably pseudohypoaldosteronism was a coincidental finding in this girl with a CDK13 mutation, but because only limited information is known about CDK13-related disorders, further investigation could be more informative to clarify this presentation.
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4.
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Liu, Z, Liu, J, Liu, G, Cao, W, Liu, S, Chen, Y, Zuo, Y, Chen, W, Chen, J, Zhang, Y, et al
The Journal of international medical research. 2018;(6):2445-2457
Abstract
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability. We herein report the first north Han Chinese patient with CIPA who exhibited classic phenotypic features and severe intellectual disability caused by a homozygous c.851-33T>A mutation of NTRK1, resulting in aberrant splicing and an open reading frame shift. We reviewed the literature and performed in silico analysis to determine the association between mutations and intellectual disability in patients with CIPA. We found that intellectual disability was correlated with the specific Ntrk1 protein domain that a mutation jeopardized. Mutations located peripheral to the Ntrk1 protein do not influence important functional domains and tend to cause milder symptoms without intellectual disability. Mutations that involve critical amino acids in the protein are prone to cause severe symptoms, including intellectual disability.
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5.
People with intellectual disabilities and dysphagia.
Robertson, J, Chadwick, D, Baines, S, Emerson, E, Hatton, C
Disability and rehabilitation. 2018;(11):1345-1360
Abstract
PURPOSE Dysphagia (difficulties in eating, drinking or swallowing) is associated with serious health complications and psychosocial sequelae. This review aims to summarise the state of the evidence regarding dysphagia in people with intellectual disabilities (excluding prevalence), identify gaps in the evidence base and highlight future research priorities. METHOD Studies published from 1 January 1990 to 19 July 2016 were identified using Medline, Cinahl, PsycINFO, Web of Science, email requests and cross citations. Studies were reviewed narratively in relation to identified themes. RESULTS A total of 35 studies were included in the review. Themes identified were as follows: health conditions associated with dysphagia; mortality; health service use; practice and knowledge in supporting people with intellectual disabilities and dysphagia; intervention effectiveness and quality of life. Dysphagia is associated with respiratory infections and choking and may be under-recognised. Silent aspiration is common and may go unnoticed. Management practices exist, but there are few intervention studies and no randomised controlled trials (RCTs), and hence, the effectiveness of these is currently unclear. CONCLUSION Dysphagia is a key concern in relation to people with intellectual disabilities. There is urgent need for research on the management of dysphagia in people with intellectual disabilities, including mealtime support offered, positioning, dietary modification and impact on wellbeing. Implications for Rehabilitation Dysphagia is common in people with intellectual disabilities, associated with serious health risks and may be under-recognised. Caregivers of people with intellectual disabilities should be educated about dysphagia. There is an urgent need for research on improving the management of dysphagia in people with intellectual disabilities. Improved recognition and management of dysphagia may reduce the occurrence of associated health conditions and reduce hospital admissions and premature death in people with intellectual disabilities.
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6.
Lifestyle Approaches for People With Intellectual Disabilities: A Systematic Multiple Case Analysis.
Steenbergen, HA, Van der Schans, CP, Van Wijck, R, De Jong, J, Waninge, A
Journal of the American Medical Directors Association. 2017;(11):980-987.e3
Abstract
BACKGROUND Health care organizations supporting individuals with intellectual disabilities (IDs) carry out a range of interventions to support and improve a healthy lifestyle. However, it is difficult to implement an active and healthy lifestyle into daily support. The presence of numerous intervention components, multiple levels of influence, and the explicit use of theory are factors that are considered to be essential for implementation in practice. A comprehensive written lifestyle policy provides for sustainability of a lifestyle approach. It is unknown to what extent these crucial factors for successful implementation are taken into consideration by health care organizations supporting this population. AIM: To analyze the intervention components, levels of influence, explicit use of theory, and conditions for sustainability of currently used lifestyle interventions within lifestyle approaches aiming at physical activity and nutrition in health care organizations supporting people with ID. METHODS In this descriptive multiple case study of 9 health care organizations, qualitative data of the lifestyle approaches with accompanying interventions and their components were compiled with a newly developed online inventory form. RESULTS From 9 health care organizations, 59 interventions were included, of which 31% aimed to improve physical activity, 10% nutrition, and 59% a combination of both. Most (49%) interventions aimed at the educational component and less at daily (19%) and generic activities (16%) and the evaluation component (16%). Most interventions targeted individuals with ID and the professionals whereas social levels were underrepresented. Although 52% of the interventions were structurally embedded, only 10 of the 59 interventions were theory-driven. CONCLUSION Health care organizations could improve their lifestyle approaches by using an explicit theoretical basis by expanding the current focus of the interventions that primarily concentrate on their clients and professionals toward also targeting the social and external environment as well as the introduction of a written lifestyle policy. This policy should encompass all interventions and should be the responsibility of those in the organization working with individuals with ID. In conclusion, comprehensive, integrated, and theory-driven approaches at multiple levels should be promoted.
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7.
[A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature].
Miao, P, Peng, J, Chen, C, Gai, N, Yin, F
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2017;(2):115-119
Abstract
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM). Searching was done using "KCNB1" as a keyword. Result: A 3.5 years old boy who visited our hospital firstly at the age of 2 years because of development delay came for follow up as he developed seizures.The forms included tonic, clonic seizures and spasm. The condition became more severe 10 months later. Electroencephalogram(EEG) showed high frequency discharge (>85%). He had poor response to multiple anti-epileptic drugs, methylprednisolone and ketogenic diet. At the age of 3, he started to have mental regression. Whole exome-sequencing study (trios) identified a novel heterozygous mutation c. G1136T (p.G379V) in KCNB1, which is not available in the databases mentioned above. This is the first case report of KCNB1 gene mutation in China. Eight cases have been reported so far worldwide and all of them were diagnosed with refractory epilepsy. Those 8 reported cases of encephalopathy were all due to de novo mutation. Conclusion: The main clinical features of patients with KCNB1 mutations include severe to profound intellectual disability, intractable seizures, hypotonia and regression of cognition and motor activity which lead to poor prognosis.
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8.
A systematic review of interventions aiming to improve involvement in physical activity among adults with intellectual disability.
Brooker, K, van Dooren, K, McPherson, L, Lennox, N, Ware, R
Journal of physical activity & health. 2015;(3):434-44
Abstract
BACKGROUND Evidence suggests that most adults with intellectual disability do not participate in sufficient amounts of physical activity (PA). A systematic review of peer-reviewed studies that reported an intervention aiming to improve PA levels of adults with intellectual disability was conducted. METHODS Keywords related to intellectual disability and physical activity were used to search relevant databases. Studies were excluded if they did not measure PA as an outcome for adults with intellectual disability, were non-English, and were not peer-reviewed. All relevant studies were included in the review regardless of methodological quality and design. RESULTS Six articles met the inclusion criteria. These included health education or health promotion programs with PA, nutrition, and weight loss components. The quality of studies included in this review was generally poor. Most studies used a prepost design, sample sizes were small, and measurement tools were used that are not valid and reliable for the population assessed. CONCLUSIONS PA interventions have the potential to improve the health and wellbeing of people with intellectual disability, a vulnerable group who require attention from public health practitioners and researchers. Given the health inequities that exist, public health researchers should target efforts to improve PA levels among this group.
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9.
Care of Adults With Intellectual and Developmental Disabilities: Cerebral Palsy.
Jones, KB, Wilson, B, Weedon, D, Bilder, D
FP essentials. 2015;:26-30
Abstract
Cerebral palsy (CP) is a group of disorders that primarily affect motor function. This developmental disability is becoming more common in adults as life expectancy increases for individuals with CP. Many physical, medical, mental, and behavioral health conditions are associated with CP, and assistance should be provided to patients with CP to optimize function, when available. These comorbidities include intellectual disabilities, seizures, muscle contractures, abnormal gait, osteoporosis, communication disorders, malnutrition, sleep disorders, and mental health disorders, such as depression and anxiety. The physician should be familiar with screening for and assisting patients with these issues. Optimizing quality of life requires individualized care plans that may include physical therapy, muscle relaxants, surgery, and nutritional support. Other issues to be addressed include methods to facilitate employment; sexual concerns; and support through local and national organizations for patients, families, and caregivers.
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10.
The effects of physical activity interventions on preventing weight gain and the effects on body composition in young adults with intellectual disabilities: systematic review and meta-analysis of randomized controlled trials.
Harris, L, Hankey, C, Murray, H, Melville, C
Clinical obesity. 2015;(4):198-210
Abstract
The aim of this study was to examine the literature on randomized controlled trials examining the efficacy of physical activity interventions to prevent weight gain and the effects on body composition in young adults with intellectual disabilities.A systematic search of Medline, Emabse, CINHAL, PsychINFO, Cochrane library and ERIC was conducted from 1946 to September 2014. Eligibility criteria included; randomized controlled trials of a physical activity intervention: objective measure of body weight and body composition; young adults (age range 16-24 years) with intellectual disabilities. Six studies met the eligibility criteria. The interventions varied in their prescription of physical activity including aerobic and strength-based activities. The mean duration of the interventions was 15.3 (range 10-21 weeks). There was no significant effect of physical activity interventions on body weight (weighted mean difference: -0.17 kg, 95% confidence interval, -1.04 kg to 0.72 kg) and body composition outcomes. The meta-analysis showed that physical activity interventions did not prevent weight gain in young adults with intellectual disabilities. Published studies are inadequate to form firm conclusions. Future longer term studies of interventions specifically designed for this population group are required to elucidate the effects of physical activity interventions on body composition and the prevention of weight gain in young adults with intellectual disabilities.