Fragile X syndrome and fragile XE mental retardation

There are two forms of mental handicap associated with fragile sites on the end of the long arm of the X chromosome. The well known common disorder Fragile X syndrome is associated with FRAXA and a rare non-specific form of mental handicap is associated with FRAXE. The cytogenetics of these fragile sites is considered. For Fragile X syndrome details are given of the molecular genetics, inheritance patterns, genetic counselling, methods for diagnosis of index cases, carrier detection and prenatal diagnosis. Series of prenatal diagnoses are briefly reviewed and technical and biological problems associated with this procedure are considered. Prenatal diagnosis of Fragile X syndrome using molecular genetic techniques is now a well established procedure, with the only significant problem being the inability to accurately predict phenotype in female fetuses with full mutations. Few prenatal diagnoses of Fragile XE non-specific mental retardation have been recorded. In principle the technical aspects of such a prenatal diagnosis should be little different from those for Fragile X syndrome. Incomplete knowledge of the phenotypic effect of the full mutation in males and females would make phenotypic prediction for any fetus shown to have such a mutation very difficult. At this stage all that could be determined with precision is that the mutation was present or absent in the fetus. Possible consequences of this are discussed.     

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.     

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.     

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy

The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.     

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)     

Effects of jumping skill training on walking balance for children with mental retardation and Down's syndrome

In the present study, we hypothesized that the enhancements obtained from the practice of jumping activity could be transferred to improve the walking balance in children with mental retardation (MR) and Down's syndrome (DS). SUBJECTS: Fourteen children with the diagnosis of MR or DS, aged 3 to 6 years, were recruited from a day care institution. They were ambulant but without jumping ability. Sixty-one non-handicapped children was used to serve as a normative comparison group. METHOD: Before the training program, the performances of walking balance, jump skills and jumping distances were assessed individually by one physical therapist. The balance sub-test in the Bruininks Oseretsky Test of Motor Proficiency (BOTMP) was administered to assess the walking balance. Motor Skill Inventory (MSI) was used to assess the qualitative levels of jumping skills. A jumping skill training lesson that included horizontal jumps and vertical jumps was designed and integrated into the educational program. The recruited children received 3 sessions of training per-week for 6 weeks. A post-training test and a follow-up test were administered to the handicapped children. RESULT: In BOTMP scores, statistical differences exited between the pre-training and post-training tests in the tested items of floor walk and beam walk. However, no significant difference was found in the items of floor stand, beam stand and floor heel-toe walk. MSI scales revealed there were significant differences between pre-training and post-training tests. There was no significant difference between the scores of post-training test and the follow-up test. DISCUSSION: The results implicated that the jumping activity might effectively evoke the automatic and dynamic postural control. Moreover, the significant improvements of the floor walk and beam walk performances might be due to the transferred effects via the practice of dynamic jumping activity. Furthermore, implications and suggestions are discussed.     

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal

Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is described, using a rapid and simple antibody test on uncultured amniotic fluid cells. The test requires 1 ml of amniotic fluid and the results of this antibody test are available on the same day as the amniocentesis.     

Evaluation of a sexual abuse prevention program for adults with mental retardation

We have measured the Fourier transform spectrum of natural OCS from 3700 to 4800 cm-1 with a near Doppler resolution and a line-position accuracy between 4 and 8 x 10(-5) cm-1. For the normal isotopic species, 37 vibrational transitions have been analyzed for both frequencies and intensities. We also report 15 bands of OC34S, eight bands of O13CS, nine bands of OC33S, and two bands of 18OCS. Important effective Herman-Wallis terms are explained on the basis of eigenvectors. A comparison of different line-pointing programs is also presented. Copyright 1998 Academic Press.     

Opioid antagonist effects on self-injury in adults with mental retardation: response form and location as determinants of medication effects

The opioid antagonist naltrexone was administered to 8 adults with severe or profound mental retardation and extensive histories of self-injurious behavior. Five-minute behavioral samples were observed randomly out of every hour from 8 a.m. through 3 p.m., Monday through Friday, for four 2-week phases (baseline, placebo, 50 mg, and 100 mg). During naltrexone administration, there were fewer days with frequent head-banging and self-biting, whereas there were more days on which blows to the head or self-biting were infrequent. Self-injurious participants slept 1.38 hours less per night during baseline, which was unaffected by naltrexone.     

Development of a psychopathology rating scale for children with mental retardation.

A total of 583 children and adolescents with mental retardation were rated on a new psychometric instrument designed to screen for dual diagnosis (psychopathology in individuals with mental retardation). Two psychiatrists and 2 clinical psychologists judged the items to have face validity as expressions of psychopathology in children and adolescents with mental retardation. Cronbach's alpha coefficient was .91 for the total score and varied between .57 and .86 for 10 psychometric scales. Children and adolescents who had a dual diagnosis obtained total scores approximately 1 standard deviation higher than those who did not have a dual diagnosis. Each of 4 diagnostic groupings had test profiles in accordance with expectation. The results suggest that the instrument is particularly well suited for use in screening and for help in the analysis of the relationships between certain behavior problems and psychopathology. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Predicting the earnings of supported employees with mental retardation: a longitudinal study

A random sample (N = 197) of supported employees with mental retardation was examined in a longitudinal study. Results indicate that intelligence, prior earnings, and federal job subsidy predicted future earnings. Statistical controls applied to the stratified sample show that job placement, job type, subsidy, and means of transportation had little influence on earnings.     

Confirmed abuse cases in public residential facilities for persons with mental retardation: a multi-state study

Our experience with 10 patients who suffered midshaft fractures of the femur and injuries to their ipsilateral hips has resulted in a treatment protocol that we believe can avoid unnecessary complications. The surgical protocol is a three-stage procedure based on (1) intramedullary nailing of the femur with interlocking for preserving the anatomic length and rotation of the femur; (2) treatment of the hip joint injury by means of open reduction and internal fixation of the acetabular fracture and/or reduction and fixation of the fractured femoral neck; and (3) repair of the extensor mechanism. Eight patients received this treatment and had fast recoveries. Union of the femoral fracture and full range of motion of the knee joint were observed within 3 months. In contrast, two patients who had received different surgical treatment had incomplete functional recoveries. This study offers a treatment protocol for ipsilateral disruption of the extensor mechanism, hip joint injury, and midshaft fracture of the femur in the multiply injured patient that can achieve full recovery with no complications. This relatively rare combination of injuries is definitely worthy of special attention.     

Validation of a new immunoblot assay (LiaTek HIV III) for confirmation of human immunodeficiency virus infection

BACKGROUND: Used as a supplemental assay, new anti-human immunodeficiency virus (HIV) immunoblots, employing recombinant and synthetic antigens, appeared to resolve the majority of samples with false-reactive Western blot results. Would it be possible to completely replace the Western blot by an immunoblot for confirmation and exclusion of HIV infection? STUDY DESIGN AND METHODS: The sensitivity of the new LiaTek HIV III immunoblot assay (Organon Teknika, Turnhout, Belgium) was tested on 416 Western-blot positive samples (386 HIV-1, 22 HIV-2, 1 HIV-1/2, and 7 HIV-O) and on 45 HIV-1 seroconversion samples. The specificity was tested on 146 samples from noninfected donors with false-positive results on a HIV screening test. RESULTS: All Western-blot-positive samples tested positive in the immunoblot (sensitivity: 100%). The immunoblot could not discriminate between HIV-1 and HIV-2 infection in 22 of 416 (5%) samples. The LiaTek assay showed reactivity in 28 of 45 seroconversion samples, whereas the Western blot reacted in 30 of 45 seroconversion samples. With false-positive donor samples, the immunoblot was indeterminate in 10 of 146 samples (specificity: 93%), and the Western blot was indeterminate in 44 of 146 samples (specificity: 70%). CONCLUSION: Like the Western blot, the immunoblot runs the risk of missing samples that are reactive by enzyme immunoassay during the early stage of HIV infection. Nevertheless, considering its superior specificity on false-positive donor samples, it appears that the immunoblot offers a cost-effective alternative to the Western blot assay for confirmation and exclusion of HIV infection.     

Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation

A 4 year old girl is described with severe mental retardation, peculiar face with nasal hypoplasia, sparse hair, genital hypoplasia, truncal obesity, puffy hands, and small feet with complete cutaneous syndactyly of the second and third toes.