Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 and its closest homolog, FOXP1, are coexpressed in brain regions that are important for language and cooperatively regulate developmental processes, raising the possibility that FOXP1 may also be involved in developmental conditions that are associated with language impairment. In order to explore this possibility, we searched for mutations in FOXP1 in patients with intellectual disability (ID; mental retardation) and/or autism spectrum disorders (ASD). We first performed array-based genomic hybridization on sporadic nonsyndromic ID (NSID) (n = 30) or ASD (n = 80) cases. We identified a de novo intragenic deletion encompassing exons 4-14 of FOXP1 in a patient with NSID and autistic features. In addition, sequencing of all coding exons of FOXP1 in sporadic NSID (n = 110) or ASD (n = 135) cases, as well as in 570 controls, revealed the presence of a de novo nonsense mutation (c.1573C>T [p.R525X]) in the conserved forkhead DNA-binding domain in a patient with NSID and autism. Luciferase reporter assays showed that the p.R525X alteration disrupts the activity of the protein. Formal assessments revealed that both patients with de novo mutations in FOXP1 also show severe language impairment, mood lability with physical aggressiveness, and specific obsessions and compulsions. In conclusion, both FOXP1 and FOXP2 are associated with language impairment, but decrease of the former has a more global impact on brain development than that of the latter.
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PMID:De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. 2095 Jul 88

Hemimegalencephaly is a rare congenital brain malformation, usually associated with mental retardation, * refractory epilepsy, and progressive neurological deficits. We report the case of a 19-year-old female with de novo diagnosis of right hemimegalencephaly, normal intellectual function, and history of non-refractory epilepsy. She presented with weakness and paraesthesia of the left leg. Extensive evaluation was negative for other causes for the weakness, which was attributed to progressive neurological damage secondary to long-standing subclinical epileptic activity in the hemimegalencephalic hemisphere. This patient underwent a cerebral fluorodeoxyglucose positron emission tomography that demonstrated near-normal cortical metabolism. Formal neuropsychological evaluation revealed mild deficits in the affected hemisphere, but preserved general intellectual function. This case illustrates the wide phenotypic variations in this condition and raises questions about prenatal counselling for hemimegalencephaly.
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PMID:Hemimegalencephaly in an adult with normal intellectual function and mild epilepsy. 2218 30

Psychiatry residents completing their consultation-liaison (CL) rotations are implicitly expected to recognize and consider countertransference reactions when offering clinical recommendations. Residents often lack formal guidance in this role, as there exists limited examination of clinical scenarios from a psychodynamic perspective. The authors present a historical review of the literature on countertransference with the medically ill and describe a clinical vignette illustrating the vicissitudes of liaison work. The case involves a psychotic patient with mental retardation and acute renal failure. Through refusal of care and a tumultuous clinical course, this patient elicited various countertransferential reactions from the primary care and CL teams, in turn adversely impacting treatment. The case illustrates how clinicians' failure to collaborate led to hospital administrators having to take on the liaison role. (1) A review of literature corroborates the importance of CL psychiatrists' assistance in the management of countertransference. At the same time, it is notable for a paucity of guidance in teaching these skills to psychiatry trainees. The psychiatry resident-in-training faces challenges and shortcomings in the management of countertransference. Formal training in this aspect of psychiatric consultation is lacking, as evidenced by extant publications. The authors propose future directions for research and teaching, with emphasis on clarifying the liaison component of CL psychiatry and advocating for establishment of psychodynamic psychotherapy training guidelines in the general hospital setting.
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PMID:Countertransference in the general hospital setting: implications for clinical supervision. 2573 81