severe intellectual disability
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2022 ◽  
pp. 088307382110636
Author(s):  
Anthony L. Fine ◽  
Lily C. Wong-Kisiel ◽  
Katherine C. Nickels ◽  
Elaine C. Wirrell

Introduction This study was designed to assess current recommendations from child neurologists and epileptologists on masking for school-age children with epilepsy. Methods A 7-item survey was created and sent out to members of the Child Neurology Society and Pediatric Epilepsy Research Consortium in August of 2021 to assess current practice and provider recommendations on masking. Results One hundred four individuals participated with representation from all regions of the United States. Masking was recommended by 95.1%, with 63.4% (n = 66) noting exception of those with severe intellectual disability, autism, and behavioral problems. Of those who write exemption letters, 54% write these <5% of the time. Only 3% reported potential adverse events associated with masking. Conclusion Nearly all respondents recommended masking for school-age children with epilepsy. Potential risks of masking and adverse events were low. Improved guidance on masking is needed to ensure academic success of our patients with epilepsy.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Shinsuke Yamamoto ◽  
Masanori Nashi ◽  
Keigo Maeda ◽  
Naoki Taniike ◽  
Toshihiko Takenobu

Abstract Background The postoperative complications of mandibular fracture include malocclusion, infection, nonunion, osteomyelitis, and sensorial mental nerve dysfunction. However, there are no reports regarding postoperative dysphagia as a complication of mandibular fracture. Herein, we report a rare case of postoperative dysphagia caused by delayed mandibular fracture treatment in a patient with severe intellectual disability. Case presentation A 46-year-old Japanese male patient with severe intellectual disability fell down and struck his chin. The patient was referred to our department 10 days after the accident. Upon examination, he could not close his mouth because of severe left mandibular body fracture. Open reduction and internal fixation was performed under general anesthesia 16 days after sustaining the injury, and normal occlusion was eventually achieved. However, the patient could not swallow well a day after surgery. He was then diagnosed with postoperative dysphagia caused by disuse atrophy of muscles for swallowing based on videoendoscopic examination findings. Adequate dysphagia rehabilitation could not be facilitated because of the patient’s mental status. Postoperative dysphagia did not improve 21 days after surgery. Therefore, percutaneous endoscopic gastrostomy was required. Conclusions The treatment course of the patient had two important implications. First, postoperative dysphagia caused by disuse atrophy may occur if treatment is delayed in severe mandibular body fracture. Second, in particular, if a patient with severe intellectual disability develops postoperative dysphagia caused by disuse atrophy, adequate dysphagia rehabilitation cannot be facilitated, and percutaneous endoscopic gastrostomy may be required. Therefore, early open reduction and internal fixation is required for mandibular fracture in a patient with severe intellectual disability.


2021 ◽  
pp. 1-7
Author(s):  
Mark Weiser ◽  
Or Frenkel ◽  
Daphna Fenchel ◽  
Dorit Tzur ◽  
Sven Sandin ◽  
...  

Abstract Background Although the ICD and DSM differentiate between different psychiatric disorders, these often share symptoms, risk factors, and treatments. This was a population-based, case–control, sibling study examining familial clustering of all psychiatric disorders and low IQ, using data from the Israel Draft-Board Registry on all Jewish adolescents assessed between 1998 and 2014. Methods We identified all cases with autism spectrum disorder (ASD, N = 2128), severe intellectual disability (ID, N = 9572), attention-deficit hyperactive disorder (ADHD) (N = 3272), psychotic (N = 7902), mood (N = 9704), anxiety (N = 10 606), personality (N = 24 816), or substance/alcohol abuse (N = 791) disorders, and low IQ (⩾2 SDs below the population mean, N = 31 186). Non-CNS control disorders were adolescents with Type-1 diabetes (N = 2427), hernia (N = 29 558) or hematological malignancies (N = 931). Each case was matched with 10 age-matched controls selected at random from the Draft-Board Registry, with replacement, and for each case and matched controls, we ascertained all full siblings. The main outcome measure was the relative recurrence risk (RRR) of the sibling of a case having the same (within-disorder RRR) or a different (across-disorder RRR) disorder. Results Within-disorder RRRs were increased for all diagnostic categories, ranging from 11.53 [95% confidence interval (CI): 9.23–14.40] for ASD to 2.93 (95% CI: 2.80–3.07) for personality disorders. The median across-disorder RRR between any pair of psychiatric disorders was 2.16 (95% CI: 1.45–2.43); the median RRR between low IQ and any psychiatric disorder was 1.37 (95% CI: 0.93–1.98). There was no consistent increase in across-disorder RRRs between the non-CNS disorders and psychiatric disorders and/or low IQ. Conclusion These large population-based study findings suggest shared etiologies among most psychiatric disorders, and low IQ.


2021 ◽  
Author(s):  
Konrad Platzer ◽  
Heinrich Sticht ◽  
Caleb Bupp ◽  
Mythily Ganapathi ◽  
Elaine M. Pereira ◽  
...  

We describe four patients with a neurodevelopmental disorder and de novo missense variants in SLC32A1, the gene that encodes the vesicular GABA transporter (VGAT). The main phenotype comprises moderate to severe intellectual disability, early onset epilepsy within the first 18 months of life and a choreatic, dystonic or dyskinetic movement disorder. In silico modeling and functional analyses in cultured neurons reveal that three of these variants, which are located in helices that line the putative GABA transport pathway, result in reduced quantal size, consistent with impaired filling of synaptic vesicles with GABA. The fourth variant, located in the VGAT N-terminus, does not affect quantal size, but increases presynaptic release probability, leading to more severe synaptic depression during high frequency stimulation. Thus, variants in VGAT can impair GABAergic neurotransmission via at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. This work establishes de novo missense variants in SLC32A1 as a novel cause for a neurodevelopmental disorder with epilepsy.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ke Wu ◽  
Yan Cong

Abstract Background Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial features and minor skeletal features. The aim of this study was to investigate the genetic etiology of a Sudanese boy with severe developmental delay, intellectual disability, and craniofacial phenotype using trio-based whole-exome sequencing. To our knowledge, no patients with ASXL3 gene variant c.3043C>T have been reported detailedly in literature. Case presentation The patient (male, 3 years 6 months) was the first born of a healthy non-consanguineous couple originating from Sudan, treated for “psychomotor retardation” for more than 8 months in Yiwu. The patient exhibited severely delayed milestones in physiological and intellectual developmental stages, language impairment, poor eye-contact, lack of subtle motions of fingers, fear of claustrophobic space, hypotonia, clinodactyly, autistic features. Peripheral blood samples were collected from the patient and his parents. Trio-based whole-exome sequencing(Trio-WES) identified a de novo heterozygous ASXL3 gene variant c.3043C>T;p.Q1015X. Sanger sequencing verified variants of this family. Conclusion Trio-WES analysis identified a de novo nonsense variant (c.3043C>T) of ASXL3 gene in a Sudanese boy. To our knowledge, the patient with this variant has not been reported previously in literature. This study presents a new case for ASXL3 gene variants, which expanded the mutational and phenotypic spectrum.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jhanvi Shah ◽  
Harsh Patel ◽  
Deepika Jain ◽  
Frenny Sheth ◽  
Harsh Sheth

Abstract Background Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date. Case presentation This case reports an ultra-rare case of a male affected with RTT surviving beyond the age of 2 years due to post-zygotic de novo somatic mosaicism. He was identified with a known pathogenic variant c.538C > T (p.R180*), which to the best of our knowledge is exclusively seen in females and has never been reported in a male before. Conclusion The present case is the first report of a mosaic male affected with RTT from India. The present report also carried out genotype-phenotype correlations across surviving mosaic males with RTT. We also postulate the effect of variant type, position along the gene and the variant allele fraction in different tissue types to be correlated with disease severity.


2021 ◽  
Vol 9 ◽  
Author(s):  
Baiyu Lyu ◽  
Yan Dong ◽  
Juan Kang

Background: The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C&gt;T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties.Case Presentation: We report a new case with a neurodevelopmental disorder characterized by severe intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. Brain MRI reveals brain dysplasia. We observe a de novo heterozygous c.892C&gt;T (p.Arg298Trp) variant in the NACC1 gene in this case. Now, the child regularly goes to the hospital for rehabilitation training (once a month). Sodium Valproate (10 mg/kg/day) and Clobazam (10 mg/kg/day) are used in the treatment of epilepsy. A total of three articles were screened, and two papers were excluded. The search revealed one article related to a syndrome caused by a de novo heterozygous c.892C&gt;T (p.Arg298Trp) variant in the NACC1; they screened the main clinical features of eight cases of a syndrome, which were summarized and analyzed.Conclusions: The NACC1 gene is a member of the BTB/POZ family of transcription factors. A de novo heterozygous c.892C&gt;T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. At present, there is no effective cure. In the future, we need more cases to determine the phenotype–genotype correlation of NACC1 variants. Many questions remain to be answered, and many challenges remain to be faced. Future transcriptional studies may further clarify this rare, recurrent variant, and could potentially lead to targeted therapies.


2021 ◽  
Author(s):  
◽  
Debora Morita Kagohara

<p>Social, communication, academic, and leisure skills are important for healthy development and a productive life. Individuals with developmental disabilities, however, have impairments that may affect their ability to acquire these skills or may not have had the opportunity to learn them. Compared to peers, these individuals may require additional or modified instruction to acquire new skills. A number of teaching techniques have been examined in the special education literature but as new technology, such as portable devices, become available, further research is needed to examine the effectiveness of interventions employing this new technology.  The studies in this thesis examined the use of portable multimedia devices like the iPod Touch® and iPad® in combination with video modelling to teach leisure, academic and social skills to individuals with developmental disabilities. In the first two studies, students with severe intellectual disability were shown a video modelling instruction on an iPod Touch teaching them to operate the same iPod to watch video clips and listen to music. In the third study, a video modelling instruction was presented on an iPad to teach two students with Asperger syndrome how to use the spell-check function on a computer word processor. In the final study, a Social StoryTM presentation and a video modelling segment were presented on an iPad to demonstrate to two students with Asperger syndrome how to greet adults at school.  An important aspect of these studies is that they afforded some degree of self-determination to the students by giving them a chance to have an input in the learning process (e.g. whether they would like to participate, how they prefer to learn, their favourite stimuli). Self-determination has been linked to a better quality of life and more positive academic, leisure, and independent living outcomes. Interventions promoting self-determination for individuals with intellectual disabilities and autism are, therefore, paramount. The data from all studies suggest video modelling and portable devices can be successfully used to teach a range of skills to children with developmental disabilities. The devices were not only effective as teaching tools but also provided the participants with opportunities for leisure activities. The use of portable technology allowed for efficient intervention delivery and may have had the additional advantage of being motivating to the participants. The studies also illustrate how the same procedures can be successfully used to teach children with lower and higher cognitive abilities.</p>


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