Neurocognitive follow ‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

ConclusionThe long-term observations are sparse in PMD andSHANK3 mutations. This is the neurocognitive follow-up from childhood to middle ages, where a sharp neurocognitive decline was observed. We conclude that progressive neuropsychiatric symptoms in adolescence are a universal clinical clue for PMD diagnosis and an underlyingSHANK3 splicing site mutation.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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CONCLUSIONS: COVID-19 pandemic has given rise to barriers that affect almost every aspect of healthcare and rehabilitation in neurologically challenged populations prompting an increase in their disability level. This can assist policymakers in designing mitigation strategies to minimize the detrimental effects on this vulnerable population.Implications for rehabilitationPandemic has led to the worsening of existing motor and non-motor symptoms, which need to be monitored, assessed and managed medically, and through rehabilitation in neurologically challenged populations.Notable decline of cognition and physical activity i...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Source Type: research
This study was conducted to investigate the prevalence of seizures and the association with genetic and metabolic features since there has been little research related to seizures in PMS. For 57 individuals, seizure data was collected from caregiver interviews, genetic data from existing cytogenetic records and Sanger sequencing for nine 22q13 genes, and metabolic profiling from the Phenotype Mammalian MicroArray (PM-M) developed by Biolog. Results showed that 46% of individuals had seizures with the most common type being absence and grand-mal seizures. Seizures were most prevalent in individuals with pathogenic SHANK3 mu...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
This study ’s objective was to correlate the abnormalities in brain MRIs performed at corrected-term age for minor or moderate neurocognitive disorders in children school-age born extremely premature (EPT) and without serious sequelae such as autism, cerebral palsy, mental impairment. Data were issued from a cross-sectional multicenter study (GP-Qol study, number NCT01675726). Clinical examination and psychometric assessments were performed when the children were between 7 and 10 years old during a day-long evaluation. Term-equivalent age brain MRIs on EPT were analyzed with a standardized scoring sys tem. There...
Source: Brain Imaging and Behavior - Category: Neurology Source Type: research
Fragile X syndrome (FXS) is the most common single-gene cause of intellectual disability and autism spectrum disorder. Individuals with FXS present with a wide range of severity in multiple phenotypes including cognitive delay, behavioral challenges, sleep issues, epilepsy, and anxiety. These symptoms are also shared by many individuals with other neurodevelopmental disorders (NDDs). Since the discovery of the FXS gene, FMR1, FXS has been the focus of intense preclinical investigation and is placed at the forefront of clinical trials in the field of NDDs. So far, most studies have aimed to translate the rescue of specific ...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
ConclusionFindings encourage precision medicine approaches tailored to age and sex groups for best HRQoL outcomes in adults with ASD.ClinicalTrials.gov Identifier: NCT04017793.
Source: Quality of Life Research - Category: Health Management Source Type: research
Colleen HroncichDr. Teresa Sanders loves teaching. But she realized in her first year as a  public school teacher that the system doesn’t work—especially for children with special needs. She dreamed of starting her own school one day.“I started writing my vision for my school more than a decade ago,” she says. Her vision involved a wholistic, comprehensive school that worked closely with families. She would focus on children with behavioral problems who are not served well by public schools.Dr. Sanders openedSafari Small Schools on March 1, 2020 —right as COVID-19 was beginning ...
Source: Cato-at-liberty - Category: American Health Authors: Source Type: blogs
Cell Rep. 2021 Oct 12;37(2):109805. doi: 10.1016/j.celrep.2021.109805.ABSTRACTFragile X syndrome (FXS), a commonly inherited form of autism and intellectual disability, is associated with emotional symptoms that implicate dysfunction of the amygdala. However, current understanding of the pathogenesis of the disease is based primarily on studies in the hippocampus and neocortex, where FXS defects have been corrected by inhibiting group I metabotropic glutamate receptors (mGluRs). Here, we observe that activation, rather than inhibition, of mGluRs in the basolateral amygdala reverses impairments in a rat model of FXS. FXS ra...
Source: Cell Research - Category: Cytology Authors: Source Type: research
Basel, 13 October 2021 – Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced new long-term data that reinforce the benefit of early initiation and ongoing treatment of OCREVUS® (ocrelizumab) on disability progression in relapsing multiple sclerosis (RMS) and primary progressive MS (PPMS), as well as safety outcomes for an analysis of shorter 2-hour infusion in minority populations. OCREVUS data from all clinical trials consistently show a favourable benefit-risk profile over eight years. Roche and research partners will also present four late-breaking abstracts to share the latest data regarding COVID-19 and vacci...
Source: Roche Investor Update - Category: Pharmaceuticals Source Type: news
ConclusionTatton-Brown-Rahman syndrome should be considered in children with extreme tall stature and intellectual disability. Percutaneous epiphysiodesis surgery to mitigate extreme tall stature may be considered.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
ConclusionThis case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication inCNTNAP2 points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
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