Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26

Feeding difficulty and malnutrition are common in disabled children. Intake may be reduced because of anorexia, chewing and swallowing difficulties, or vomiting. Feeding is often time consuming, unpleasant, and may result in aspiration. Malnutrition may result in impaired growth and neurodevelopment, and impaired cardiorespiratory, gastrointestinal, and immune functions. Multidisciplinary assessment is recommended and should include a feeding history, oral-motor examination, and nutritional assessment. The energy requirements of most disabled children are less than those for a normal child of the same age but may be increased by spasticity, athetosis, convulsions, and recurrent infections. Micronutrient deficiencies may occur even in children receiving nutritionally complete feeds if the volume is reduced because of low energy requirements. Oral intake may be improved by a change of posture, special seating, feeding equipment, oral desensitization, mashing or pureeing of lumpy food, thickening of liquids, use of calorie supplements, and treatment of reflux/esophagitis. Non-oral feeding should be considered when oral feeding is unsafe, not enjoyable, inadequate, or very time consuming. Long-term support requires a gastrostomy. This is less obtrusive than a nasogastric tube, less likely to become displaced, less traumatic, and is associated with improved quality of life, but is also associated with significant morbidity. If there is symptomatic reflux a fundoplication may be required, but this is associated with significant mortality and substantial morbidity.     

A gene for FG syndrome maps in the Xq12-q21.31 region

AIMS: An increased risk of adenocarcinoma of the oesophagus has been demonstrated in patients with long segments of Barrett's mucosa. The risk of cancer associated with short segments of metaplasia of the oesophagogastric junction is not known. METHODS AND RESULTS: We report a case of early adenocarcinoma of the oesophagus arising on short tongues of Barrett's mucosa associated with an oesophageal cyst. The patient was a 68-year-old man with no previous clinical history of gastro-oesophageal reflux disease. The fortuitous discovery of an oesophageal cyst lead to the diagnosis of short tongues of Barrett's mucosa with high-grade dysplasia. On pathological examination of the resected specimen, an early adenocarcinoma had developed in Barrett's mucosa, localized just above the oesophageal cyst. CONCLUSIONS: As oesophageal cysts can cause symptoms suggestive of reflux, we hypothesize that this association may not be fortuitous.     

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

The effectiveness of five model-independent procedures for the estimation of lag times (Tlag) was evaluated. Two new methods utilize early concentrations which are weighted by a term exponential in time. They estimate Tlag by weighted linear regression. One of these approaches evaluates also the time when maximum concentration is reached (Tmax). In addition, three older, empirically used procedures are considered. Two methods apply either the first two or three quantifiable concentrations and estimate the lag time by linear regression. Finally, the last unquantifiable concentration is often used as a measure of lag time. Simulations demonstrated that this procedure had large bias and generally high standard deviation. In contrast, the new methods showed small variation and negligible bias. The procedures applying linear regression had intermediate characteristics. Lag times were evaluated effectively by an average of two observations between Tlag and Tmax.     

X-linked mental retardation with a fragile site in Xq and an inversion of chromosome no. 9

The second black male with X-linked mental retardation and a fragile site at Xq27 was ascertained by screening for macroorchidism. GTG banding revealed the presence of an inv(9)(p13q21). This inversion is thought to be a chance occurrence and is probably of no clinical significance. More cases having a marker Xq and a chromosome abnormality are expected; some of these abnormalities will be clinically significant.     

Family process and adaptation to children with mental retardation: Disruption and resilience in family problem-solving interactions.

Family problem-solving interactions were examined in families (N?=?165) of school-aged children with mild or moderate mental retardation (MR) and a comparison sample (N?=?52). The results demonstrated a disruptive impact of children with MR in the form of more directiveness by mothers and fathers, less supportive problem solving by single mothers, and less active problem solving by the target children in the MR group. Nevertheless, the absence of high rates of aversive behaviors in the MR group and the similarities in siblings' behaviors across the groups suggested that the MR families were also resilient in the face of special demands. Role differences among mothers, fathers, and siblings also were highly consistent in the two groups. Evidence of difficulties for single mothers and problem behaviors by other children in the family suggested that mental retardation is one of many challenges that families learn to cope with successfully. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Localization of the human phosphotyrosine phosphatase-related genes (h-PRL-1) to chromosome bands 1p35-p34, 17q12-q21, 11q24-q25 and 12q24

The h-PRL-1 gene codes for a new phosphotyrosine phosphatase that may play an important role in the control of basic cellular processes such as cell growth and proliferation. Using the cDNA of the h-PRL-1 gene as a probe, we examined a somatic mouse and hamster x human hybrid panel and found that chromosomes 1, 17 and 11 harbor sequences homologous to h-PRL-1. By in situ hybridization of metaphase spreads, subchromosomal localizations were determined at bands 1p35-p34, 17q12-q21 and 11q24-q25; in addition, a faint signal was detected at 12q24. The chromosomal assignment of the genes homologous to h-PRL-1 will help the investigation of its possible involvement in human diseases involving genetic alteration at these chromosomal regions.     

X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs. Report of a family

A new family is reported of a Bickers-Adams-Edwards syndrome. This family has been studied up to three generations. Two female carriers are known. Among the six male children who are affected, four are severely mentally retarded, have spasticity of the legs, and survived with a mild macrocephaly, and two show a more severe and rapid progression of head enlargement. A partial aqueductal stenosis, with remarkable ventricular dilatation, has been demonstrated by pneumoence-phalography in three boys. A deformity of the thumbs links these six children together. One of them has been treated by a ventriculoperitoneal shunt, when 18 months old, without any improvement in the neurological condition. The mental deficiency is much more severe than could be expected from the degree of hydrocephalus, at least as estimated clinically by the macrocephaly. Hydrocephalus is precocious, and the ventricular dilatation very advanced when seen by PEG studies. Recognition of the female carriers is not possible.     

From categorization to classification: A comparison among individuals with autism, mental retardation, and normal development.

Free-sorting, matrix, and class-inclusion tasks were administered to 16 participants with autism, 16 participants with mental retardation (MR), and 16 normal children, matched for mental age. On perceptual matrices, participants with MR performed less well than those with autism, who performed less well than normal children. On functional matrices, participants with autism and those with MR performed less well than normal children. Participants with autism performed less well than participants with MR and normal children in free-sorting representational objects and in the class-inclusion tasks, which require higher operational thought. These results suggest that individuals with autism have difficulties with tasks that necessitate internal manipulation of information. This impairment is discussed in relation to the cognitive deficit characterizing autism. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed.     

Mental illness and mental retardation: Message from the President of the United States relative to mental illness and mental retardation.

2 health problems of critical size and tragic impact are mental illness and mental retardation. "There are now about 800,000 such patients in this Nation's institutions—600,000 for mental illness and over 200,000 for mental retardation." A 3-fold attack is proposed: (a) Ascertain causes and eradicate them. (b) Strengthen underlying resources of knowledge and of skilled manpower. (c) Strengthen and improve facilities serving the mentally ill and mentally retarded. A national program for mental health is proposed which emphasizes comprehensive community mental health centers, improved care in state mental institutions, and expansion of research activities and increase in professional manpower. A national program to combat mental retardation emphasizing prevention, community services, and research is also proposed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Persons with emotional disturbance and mental retardation.

In response to discussion by S. Reiss et al (see record 1982-30849-001) about sources of information on the prevalence of emotional problems among retarded people, the present author describes a study of 27,385 Ss with developmental disabilities that looks at dual diagnoses (psychiatric impairment and developmental disability) in relation to age, intellectual level, and residential setting. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

A case of juvenile onset ataxia with dystonia, myoclonus, sensorineural hearing loss and mental retardation

A 35-year-old female was reported who presented early onset and slowly progressive ataxia and retrocollis which appeared at the age of nine. On admission, neurological examination revealed cerebellar ataxia, dystonia of the neck and the right arm, myoclonus of the neck and the shoulder, slight mental retardation, supranuclear upper gaze palsy, and sensorineural hearing loss. Laboratory examination showed high serum CK activity. Electromyography and muscle biopsy findings suggested slight muscular involvement. CSF level of HVA and 5-HIAA were reduced. MRI demonstrated marked cerebellar atrophy and slight atrophy of the brain stem. To our knowledge, the characteristic combination of the neurological sign in this case has not been reported. This case was compared with EOCA (early onset cerebellar ataxia with retained tendon reflexes) and other juvenile onset cerebellar ataxia and dystonia.     

Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome

Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals have epilepsy and normal intelligence with no other congenital anomalies. A striking skew of the sex ratio has been observed because 31 of 38 probands have been female, and one gene associated with BPNH was recently mapped to chromosome Xq28. We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. Variable abnormalities included focal or regional cortical dysplasia, cataracts, and hypospadius. We hypothesize that this syndrome involves the same Xq28 locus as isolated BPNH, and we review the expanding number of syndromes associated with BPNH.     

Psychological services in educational settings to persons with mental retardation.

Reviews the 6 principles of Public Law 94-142 (the Education for All Handicapped Children Act)—including nondiscriminatory evaluation, the least restrictive environment, and individualized education—and discusses ways psychologists may be able to further the achievement of its effectiveness. Mental retardation psychologists provide an array of services, including prevention, consultation, training, education, supervision, administration, research, and consultation on individualized educational plans. Other potential areas for intervention include development of psychometric measures, social ecological assessment, and vocational education. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Implicit and explicit memory in individuals with mental retardation

Students with and without mental retardation from three age groups were compared on implicit and explicit memory tasks. Consistent with previous research on intelligence-related differences in controlled and automatic processes, students without mental retardation performed better than those with mental retardation on the explicit memory task, but there was no difference between groups on the implicit memory task. For both groups implicit and explicit memory increased from age 6 to 8 to age 10 to 12, but did not significantly increase to age 15 to 17. Because implicit memory appears to be a relative strength for students with mental retardation, we suggest further exploration into broader types of implicit processes that may be useful in training situations.