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
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- MED13L-related intellectual disability due to paternal germinal mosaicismby Beata Bessenyei on October 16, 2021
The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common form of syndromic intellectual disability with about a hundred cases reported so far. Affected individuals share overlapping features comprising intellectual disability, hypotonia, motor delay, remarkable speech delay, and a recognizable facial gestalt. De novo disruption of the MED13L gene by deletions,...
- A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress responseby Alanna Strong on October 16, 2021
Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK syndrome, characterized by the IFAP triad plus intellectual disability and multiple congenital anomalies. Here we present a patient with ichthyosis, sparse hair, pulmonic stenosis, kidney dysplasia, hypospadias, growth failure, thrombocytopenia,...
- Hospitalized children with intellectual disability: quality and safety challengesby Ariel Tenenbaum on October 16, 2021
- Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophyby Thiéry De Serres-Bérard on October 16, 2021
Myotonic dystrophy type 1 (DM1) is a multisystemic and heterogeneous disorder caused by the expansion of CTG repeats in the 3' UTR of the myotonic dystrophy protein kinase (DMPK) gene. There is a congenital form (CDM1) of the disease characterized by severe hypotonia, respiratory insufficiency as well as developmental delays and intellectual disabilities. CDM1 infants manifest important brain structure abnormalities present from birth while, in contrast, older patients with adult-onset DM1 often...