Intellectual Development Disorder
Wiki Number: W107
Diagnosis: Intellectual Development Disorder
US Patients: 2-3%
Causes: Mental Retardation and Autism Spectrum make up the greatest proportions
Medications: antipsychotics and benzodiazepines
Therapies: careful analysis and years of good teaching; educable = IQ of 50-75;
4 CURRENT ARTICLES
The world-wide medical research
reports chosen for each diagnosis
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PubMed article’s summary-abstract.
- Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case seriesby Nadia Ronzano on July 3, 2022
CONCLUSION: EEG should be taken into consideration in the first-line diagnostic flowchart of subjects with PTEN variants. The onset of a focal epilepsy, independently from its response to antiepileptic drugs, highly recommends to carry out a neuroimaging exam.
- Sleep disturbances and behavior in Smith-Magenis syndromeby Elena Garayzábal on July 2, 2022
CONCLUSIONS AND IMPLICATIONS: The worse the sleep disturbances investigated, the more severe the behavioral problems characteristics reinforcing the importance to address the sleep problems in the treatment of SMS individuals.
- Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutationsby William C Edelman on July 2, 2022
CONCLUSION: A common pathogenic consequence of splicing mutations affecting inclusion of different ATP6AP2 exons is reduction of the functional full-length transcript. The exacerbated ATP6AP2 splicing defect in brains of c.345C>T carriers is consistent with their CNS-restricted clinical presentations.
- Expanding the NGLY1 deficiency phenotype: Case report of an atypical patientby D K Nolan on July 2, 2022
NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and has a much milder intellectual disability than had been previously reported, expanding the phenotypic spectrum.