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

A small supernumerary ring chromosome has been found in a boy with overweight, dysmorphic facies and mental retardation. His mother had an interstitial deletion of the long arm of chromosome 19 and the same ring chromosome. By means of fluorescence in situ hybridization the ring chromosome was shown to be derived from the deleted chromosome, after the occurrence of two breaks: one in the centromere region, the other in the q-arm of chromosome 19.
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PMID:Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype. 129 24

Tolerability of long term clozapine treatment (7-8 years) was investigated in 27 female patients (age 34-77 years). Diagnosis according to ICD 9 was schizophrenia in 21 patients, severe psychomotor agitation with mental deficiency in 4 patients and an "endogenous" depression in 2 patients. All patients had previously been treated with different neuroleptics but with inadequate response or distressing side effects. The duration of the disorder was 10-36 years, duration of hospitalisation 10-36 years. At the day of investigation the total dose of clozapine ranged from 52-826 g, the average total dose being 385 g. The daily dose of clozapine ranged from 75 to 600 mg, the average daily dose being 225 mg. Only 2 patients were treated exclusively with clozapine, the other 25 patients were also receiving other neuroleptics. Seventy eight per cent of the investigated patients complained about hypersalivation and 63% showed overweight. In 37% of the patients the EEG demonstrated abnormalities. Mild parkinsonism was reported in 15% and akathisia in 11% of the patients, all these patients being on combined treatment. Clozapine did not induce tardive dysakinesia (TD) in any of the patients within a treatment period of 7-8 years. It is concluded that a potential benefit of clozapine includes a low incidence of neurological side effects even after long term administration.
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PMID:Tolerability of long term clozapine treatment. 281 63

Growth characteristics of 57 children with feeding gastrostomies attending the cerebral palsy clinic at a regional medical facility were evaluated. All children had severe neuromotor and orofacial involvement and mental retardation. More than 90% of the patients were less than fifth percentile for height and weight, and 80% were underweight for height before gastrostomy tube placement. Following gastrostomy, 33% remained underweight for height and 21% became overweight for height. The majority of children remained at less than the fifth percentile for height and weight. Improvement in linear growth was much less common than improvement in weight. Children with gastrostomies placed in the first year of life were most likely to exceed the fifth percentile for height and weight. The mechanisms of growth retardation in children severely affected by cerebral palsy are not known, but poor nutrition is thought to be the major contributor. Gastrostomy feeding in children severely affected by cerebral palsy can improve nutritional status but does not eliminate growth retardation. The importance of growth and adequate nutrition in reducing morbidity in children with severe neuromotor involvement remains to be established.
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PMID:Growth in children with cerebral palsy fed via gastrostomy. 277 66

Eleven individuals with Prader-Willi syndrome and 10 control subjects who had mental retardation due to other causes (with and without overeating histories) participated in two experiments on food preferences. They gave preference rankings for various foods, then chose between a small amount of their most preferred food and an alternative choice of a larger amount of mixed-preference foods (Experiment 1) or an alternative choice of a larger amount of their least preferred food (Experiment 2). Unlike overweight-prone control subjects who selected sweet food over a larger quantity of unpreferred food, subjects with Prader-Willi syndrome selected preferred items only over least-preferred items (Experiment 2) but not over mixed-preference items (Experiment 1). Implications for treatment were discussed.
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PMID:Food preferences among individuals with and without Prader-Willi syndrome. 888 73

Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in the 15q11-q13 region, but in a few cases it is caused by paternal uniparental disomy (UPD) or an imprinting mutation. The remaining 20 to 30% of AS patients exhibit biparental inheritance and a normal pattern of allelic methylation in the 15q11-q13 region. In this latter group, mutations in the UBE3A gene have recently been shown to be a cause of AS. Here we describe the phenotypic expression in 14 AS cases involving eight UBE3A mutations. These comprise 11 familial cases from five families and three sporadic cases. Subtle differences from the typical phenotype of AS were found. Consistent manifestations were psychomotor delay, a happy disposition, a hyperexcitable personality, EEG abnormalities, and mental retardation with severe speech impairment. The other main manifestations of AS, ataxia, epilepsy, and microcephaly, were either milder or absent in various combinations among the patients. In addition, myoclonus of cortical origin was frequently observed with severe fits inducing myoclonic seizures. The majority of the patients were overweight. This study showed that ataxia, myoclonus, EEG abnormalities, speech impairment, characteristic behavioural phenotype, and abnormal head circumference are attributable to a deficiency in the maternally inherited UBE3A allele. Furthermore, analysis of mutation transmission showed an unexpectedly high rate of somatic mosaicism in normal carriers. These data have important consequences for genetic counselling.
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PMID:Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. 1042 18

BACKGROUND: Prader-Willi Syndrome (PRWS) is an uncommon neuroendocrine disorder of genetic origin, described in 1956 by Prader, Labhart and Willi. The main clinical manifestations in the adult are mental retardation, hyperphagia with gross obesity, hypogonadismcriptorhismus and short stature. The life expectancy of the affected individual ranges between 20 and 30 years rarely beyond - due to complications related to excessive obesity. Sustained dieting combined with behavior modification programs, as well as gastric restrictive surgery for obesity, proved to have a high failure rate in PRWS, due to the patients' inability to cooperate in changing their eating habits. METHODS: Biliopancreatic Diversion (BPD), which does not require the patient's cooperation in changing eating habits after surgery, was performed in two PRWS patients (13- and 22-years-old), both with excessive obesity, severe respiratory distress, day sleepiness and limited mobility. RESULTS: Two years after surgery, the 13-year-old had lost 80% of her overweight, while the 22-year-old, after 1 year, had lost 34%. Recent laboratory tests showed normal data in both patients. Their respiratory distress had subsided completely, their mobility improved dramatically, and their self-image and alertness enhanced. CONCLUSION: BPD resulted in an improved quality of life in these patients.
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PMID:Biliopancreatic Diversion in Prader-Willi Syndrome Associated with Obesity. 1073 Dec 52

Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypothalamic hypogonadism, mental retardation and compulsive hyperphagia associated with early and severe obesity. Complications of overweight, such as type-2 diabetes Mellitus, dyslipidemia and diffuse atheromatosis are common. We report a 15 years old morbid obese male with PWS, with a body mass index of 57.7 kg/m2, refractory to weight-lowering treatments. He underwent preoperative evaluation and treatment by a multidisciplinary team, and subjected to a 95% gastrectomy, leaving a 50 ml remnant pouch and a long limb (120 cm) Y-Roux gastro-jejuno anastomosis. There were no surgical complications, oral feeding was initiated at the 5th day with an hypocaloric diet. During the first postoperative year, the patient lost 70 kg, achieving a body mass index of 30 kg/m2. Surgical treatment can become a therapeutic choice for obesity in PWS patients.
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PMID:[Prader-Willi Syndrome (PWS) associated to morbid obesity: surgical treatment]. 1287 Feb 38

Since 1961, Special Olympics has provided sports training and athletic competition for people with mental retardation. A recent addition to these Olympics has been the Healthy Athletes Program, designed to help the athletes improve their health and fitness, leading to enhanced sports experiences and well being. Original health services included dental and eye screening. In 2002, Special Olympics Delaware piloted a Wellness Park to add nutrition, blood pressure, and flexibility screening. Faculty from a university's health college trained discipline-specific students to conduct the screenings. Thirty nutrition and dietetics students measured height, weight, waist circumference, and calculated body mass index (BMI) for the athletes. Figures and risk-assessments were recorded on a "health report card." Two hundred ten athletes attended the nutrition screening. Ages ranged from 8 to 63 years; 81 percent males and 19 percent females. According to BMI standards, 32 percent of the athletes were overweight; 17 percent were obese. Twenty-five percent of adult males and 73 percent of adult females had a high risk waist circumference. Athletes at high risk for obesity-related diseases were referred to their primary physician for follow up. Nutrition education handouts included a simplified Food Guide Pyramid, tips for healthy eating in restaurants, 5 A Day information, and healthful hydration guides. Approximately 1,250 athletes participate in Special Olympics Delaware each year, providing a great opportunity to do some much needed health screening and improve access to health care for this often neglected population.
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PMID:Community health and nutrition screening for Special Olympics athletes. 1462 Sep 67

Participation in a health promotion program for 192 overweight and obese adults with mental retardation was associated with behavior change resulting in reduction of body mass index-BMI (weight in kg, divided by height in meters, squared) by the end of the program. We analyzed the mediating and intermediate factors contributing to weight reduction and found knowledge and exercise to be the primary contributing factors. The curriculum emphasized exercise, nutritional choices, and stress reduction. Participation in the program was associated with a reduction of 0.8 BMI or approximately 2.3 kg for 26% of the participants. Increased knowledge about healthy diet and exercise was the most significant mediator of program impact on BMI.
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PMID:Healthy behavior change of adults with mental retardation: attendance in a health promotion program. 1633 57

The present study was undertaken to evaluate the nutritional status of children with special needs in Alexandria city, on the basis of anthropometric measures. The following variables were determined in a sample of 278 disabled children (171 males, 107 females) aged 6 to 24 years, recruited from five specialized day care centers for retarded children in Alexandria: birth order, type of disability, socioeconomic status, body weight, height, body mass index (BMI) and hemoglobin level. Mentally retarded children represent the highest proportion of subjects followed by Down's syndrome and autism. There is an increase in the mean body weight of males with the increase in age among the three type of disability except at age from 14 to 18 years, while there is a fluctuation in the mean body weight between ages and disability among females. Down syndrome groups at all ages are shorter than the other groups, while disabled males are taller than females at all ages. Based on BMI for age, the incidence of obesity was higher among Down's syndrome and mentally retarded females and among autistic males (19.8%, 16.1% of males versus 15.8%, 6.7% of females with mental retardation and autism were underweight). Majority of subjects have mild degree anemia. Hemoglobin levels below the cut-off levels issued by WHO were found higher among autistic and mentally retarded females. The levels were comparable among males with autism and mental retardation and among Down's syndrome males and females. The results also revealed that underweight, overweight and obesity were more common in subjects who showed an evidence of anemia.
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PMID:Assessment of the nutritional status of children with special needs in Alexandria. Part II: Anthropometric measures. 1726 6


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