Mental Retardation

An apparently new X-linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose-6-phosphate dehydrogenase variant.

Objectives: To establish the socio-demographic and clinical profile of children attending Early Intervention Program (EIP).Methods: Retrospective analysis of case records of 100 consecutive children examined from July 2002 to June 2004. Data regarding socio-demographic variables, clinical profile, locomotor, speech and audiology functions were recorded. Data is described in terms of frequency and mean (with SD).Results: Mean age of these children was 4.0±1.4 years. 70% were male and a similar percentage hailed from urban areas. 88% were mentally retarded with mean IQ of 50±24.3. Cerebral Palsy was seen in 50% of the children, learning disorder in 24%, Attention Deficit Hyperactivity Disorder (ADHD) in 12% and autism in 4%. 25% of children suffered from epilepsy and 66% were unable to communicate verbally. 21% of children had strong evidence of genetic disorders. An etiological diagnosis could not be made in 31% of children.Conclusions: Awareness of developmental delay as well as of possible interventions is low in India. Speech delay is the only delay which is considered important by parents. Active involvement and early referrals from pediatricians, obstetricians and other specialists is suggested.

Introduction Mowat–Wilson syndrome is a congenital syndrome caused by a defect of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22–q23. The genotype–phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation. Case report This report is about one new patient from Croatia with the typical phenotype. Molecular genetic studies showed the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). This mutation has not been reported before. The literature is reviewed. Conclusion Mowat–Wilson syndrome is a newly described congenital syndrome and should be considered in any individual with characteristic facial features and mental retardation in associations with congenital malformations.

Caregiver interactions with young autistic children were contrasted with those involving caregivers and developmentally matched mentally retarded and normal infants. Caregivers of autistic children were similar to other caregivers in their responsiveness to child nonverbal communication bids and in their engagement in mutually sustained play. Caregivers of autistic children were similar to caregivers of mentally retarded children in their greater

The present study sought to identify relationships between musical features of music therapy improvisations and clients ’ level of mental retardation, using a computationally-based method of analysis. 216 improvisations, contributed by 50 clients, were collected in MIDI format. Clients were divided into four groups according to their level of diagnosed mental retardation: 1 = none, 2 = mild, 3 = moderate, 4 = severe or profound. 43 client-related musical features were automatically extracted from their improvisations in the MATLAB computer environment and entered into a series of linear regression analyses as predictors of clients ’ level of mental retardation. The final model, which contained nine significant musical variables, accounted for 67 % of the variation in clients ’ level of mental retardation. Specifically, level of mental retardation was best predicted by temporal elements of the music relating to note duration, note density, articulation, and amount of silence.

Prader–Willi syndrome (PWS) is a multi-system disorder characterized clinically by abnormal mental and physical development. PWS patients have a deletion in an imprinted region on paternal chromosome 15 (15q11–13), maternal disomy for this segment, or rarely, a chromosomal imprinting center deletion that gives rise to suppression of the equivalent paternal genes. Within the affected segment of chromosome 15 are genes

Objectives: To characterize a ring chromosome 22 by means of molecular cytogenetics in a girl with retarded neuropsychomotor development and dysmorphic features. A study carried out using fluorescent in situ hybridization (FISH) with commercially available probes. The ring chromosome 22 was identified as r(22) (p11q13.3) and did not show any significant loss of genetic material. The results confirm the relevance