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PubMed2004

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.

Clinical and molecular studies are reported on a Basque family (MRX82) with nonsyndromic X-linked mental retardation (XLMR) in five affected males. A total of 38 microsatellite markers were typed. The XLMR locus has been linked to DXS8067, DXS1001, DXS425, DXS7877, and DXS1183 with a maximum LOD score of 2.4. The haplotype studies and multipoint linkage analysis suggest a localization of the MRX82 locus to an interval of 7.6 Mb defined by markers DXS6805 and DXS7346, in Xq24 and Xq25, respectively. No gene contained in this interval has been so far associated with nonsyndromic mental retardation, except for GRIA3, disrupted by a balanced translocation in a female patient with bipolar affective disorder and mental retardation. However, the search for mutations of this gene did not showed a pathogenic mutation in the present family. Given that there are other eight MRX families overlapping this interval, none of them with known mutation, we conclude that at least one new gene responsible for nonsyndromic mental retardation is located in this region.

Chromosome Mapping↗
PubMed1985

Gastroesophageal reflux and severe mental retardation.

Recurrent vomiting is common in children with severe mental retardation and leads to significant morbidity with malnutrition, anemia, and aspiration pneumonitis. Spasms of the abdominal muscles and diaphragm, uncoordinated peristalsis, and central nervous system disorders are causes of dysphagia and continuous gastroesophageal reflux. It is desirable that mentally retarded children with vomiting have a barium swallow and esophagoscopy as early as possible. Fundoplication should be performed before complications develop. Spasms with aspiration followed by apnea, in particular, are life-threatening situations. After surgery there is a definite improvement in mental and physical development.

Adolescent↗
PubMed1975

Aerobic work capacity of mentally retarded boys and girls in junior high schools.

The maximal oxygen uptake (Vo2 max) and ergometer load at a heart rate of 170 beats/min (PWC170) were determined in mentally retarded children (74 boys and 53 girls) of ages 12-15, whose IQ ranged from 36 to 91, and the results were compared with those for normal children. Mentally retarded boys and girls showed significantly inferior body height and weight, but no significant difference was found in skinfold thickness. The mean value of PWC170 for boys and girls was 14.34 kpm/kg/min and 11.31 kpm/kg/min, respectively, significantly less than that of the normal group. The mentally retarded boys had mean VO2 max per unit body weight of 42.4 ml/kg/min, which was significantly less than the 51.2 ml/kg/min of normal boys. The mentally retarded girls had a mean of 33.1 ml/kg/min which was also less than the 41.3 ml/kg/min of normal girls. The correlation coefficient between body weight and PWC170 (kpm/min) was 0.711 and 0.720 for boys and girls, respectively, while that between body weight and VO2 max (liter/min) was 0.641 for boys and 0.656 for girls. No significant correlation was found between IQ and PWC170 (kpm/kg/min) nor between IQ and VO2 max (ml/kg/min) both for boys and for girls. Similarly, no significant correlation was found between mental age and the VO2 max value (ml/kg/min).

Adolescent↗
PubMed1989

Obsessive-compulsive disorder in a mentally retarded woman.

Obsessive-compulsive disorder is extremely rare among mentally retarded people. We report here a case of a mildly mentally retarded woman who exhibits contamination obsessions, compulsive hand-washing rituals, and avoidance.

Behavior Therapy↗
PubMed2006

Identification of messenger RNAs and microRNAs associated with fragile X mental retardation protein.

Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of the Fragile X mental retardation protein (FMRP). FMRP, which may regulate translation in neurons, not only associates with specific messenger RNAs (mRNAs) and with microRNAs (miRNAs), but also associates with the components of the miRNA pathway, including the Dicer and Argonaute proteins. It has been proposed that FMRP regulates the translation of its mRNA targets through miRNAs. In this chapter, we describe the protocol to identify the mRNAs and miRNAs associated with FMRP in vivo. The same method could also be applied to other RNA-binding proteins interacting with specific mRNAs or miRNAs.

Animals↗
PubMed1996

Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.

We attempted to evaluate the role of maternal hyperphenylalaninaemia (HPA) as an isolated cause of mental retardation and microcephaly in children. This transversal study observed the plasma phenylalanine from mothers of 161 children with mental retardation and/or microcephaly of unknown origin. In this sample, we found two women with previously undiagnosed HPA, a frequency (2/161) higher than expected for our general population (1:12 500) (p < 0.001). We concluded that the plasma phenylalanine levels should be determined during preconceptional evaluation of every woman of reproductive age that already has had a child affected either by mental retardation or microcephaly of unknown cause. It is particularly significant where women currently having their pregnancies have not been screened for phenylketonuria as newborns, as happens in most developing countries.

Adult↗
PubMed2007

[Autism and mental retardation: a study of the early social communication].

OBJECTIVE: To determine developmental communication profiles in young autistic children with mental retardation. METHODS: A group of 19 autistic children (mean age=43 months) were matched with a group of 11 mentally retarded children (mean age=39 months) on mental age (17,6 months). All of these children were without speech (less than 5 words of vocabulary). Communication skills were assessed with the Guidetti-Tourrette scales (ECSP), French adaptation of the Seibert-Hogan scales. RESULTS: Autistic children displayed a much lower score than mentally retarded children in the 3 functions of early social communication (behavior regulation, social interaction and joint attention). The developmental communication profiles was the same in the 2 groups. DISCUSSION: The results showed evidence of distortion in autistic children development: they displayed important deficits in communication skills, in comparison with cognitive skills. Autistic children mainly displayed requesting gestures: they used adults to help them to reach a goal, instead of regarding them as social partners. However, young children who have mental age less than 18 months mainly use the same functions of communication, with or without autistic trouble. CONCLUSIONS: There is a same developmental sequence in communication skills in young children, with or without autistic trouble.

Autistic Disorder↗
PubMed2004

Psychopathology and mental retardation: a study using the Rorschach Inkblot Test.

The aim of this research was to study the psychological effects of disorders such as schizophrenia and depression associated with mental retardation. The Rorschach Inkblot Test and the Wechsler Adult Intelligence Scale were administered to a group of 97 subjects (52 women and 45 men) ages 15:10 yr. to 36:6 yr. (M=21:5, SD=5:3). The subjects were divided into four subgroups according to the presence or absence of mental retardation and psychiatric diagnosis (schizophrenia versus depression). The quality of the perception in Rorschach responses and the ErlebnisTypus scores differentiated psychotic and depressed subjects well. These disorders, when associated with mental retardation, make impairment of perceptual performance worse. The interaction between Axis I mental disorders (according to DSM-IV diagnosis) and mental retardation, an Axis II disorder, is discussed.

Adolescent↗
PubMed1986

Comparison between nonhandicapped and mentally retarded workers: why they lose their jobs.

Reasons why 133 competitively employed nonhandicapped and 8 mentally retarded food service workers lost their jobs were examined. Reasons for termination were analyzed in terms of the social and production categories provided by Greenspan's (1981) social competence model. The majority of mentally retarded workers lost their jobs for productivity reasons, with some associated secondary social problems. The nonhandicapped workers lost their jobs for both social and production problems. When more than one reason was provided for termination, the impact of social problems increased. Results are discussed in terms of previous studies and in relation to their possible impact upon employment training and placement issues with mentally retarded workers.

Adult↗
PubMed1980

Original identifiers of mental retardation in a clinic population.

The original identifiers of mental retardation for a group of almost 500 consecutive admissions to a state-operated outpatient clinic were determined. The great majority of these community clients who were previously identified as mentally retarded had been diagnosed by a physician or a public or private health-related agency. More clients identified by a private physician were found on reevaluation to be at less severe levels of retardation than were the clients seen by public health-related agencies.

Adolescent↗
PubMed1996

Characteristics of seizures in a population-based series of mentally retarded children with active epilepsy.

PURPOSE: The characteristics of seizures were analysed in a population-based study of active epilepsy in 6- to 13-year-old mentally retarded children. METHODS: The search procedure included diagnostic registers, EEG registers, and registers of the Education of the Subnormal. Medical files were scrutinized, and clinical examinations and interviews with parents or caretakers or both were performed. RESULTS: The median age of seizure onset was 1.3 years, 3.1 for children with mild retardation and 0.8 for children with severe retardation. Among the 98 children identified, current seizure groups were partial in 20, generalized in 59, and mixed in 19. The prevailing seizure types were tonic-clonic, myoclonic, atypical absences, and partial complex seizures, present in 42, 33, 23, and 23 children, respectively. A total of 46 children had more than one seizure type. Seizures every day/week occurred in 44 children. There was a constancy between seizure type at onset and later seizure type. Neonatal seizures (n = 25), infantile spasms (n = 12), and status epilepticus (n = 37) occurred independent of one another. Prognostic factors for poor neurologic outcome were early onset of epilepsy, infantile spasms as onset type, and prior neonatal seizures. Children with only partial seizures less frequently had severe mental retardation, cerebral palsy, and visual impairment than those with only generalized seizures. CONCLUSIONS: Epilepsies in children with mental retardation are characterized by severe seizure manifestations. The brain damage giving rise to mental retardation and epilepsy is probably the main factor in terms of seizure outcome.

Adolescent↗
PubMed2003

Nutritional status of mentally retarded children in northwest spain: II. Biochemical indicators.

AIM: To evaluate the nutritional status of mentally retarded children in the region of Galicia, northwest Spain, on the basis of serum biochemistry variables. METHODS: The following serum biochemistry variables were determined in a sample of 128 mentally retarded children (81 boys and 47 girls): albumin, prealbumin, retinol-binding protein, transferrin, ferritin, ceruloplasmin, iron, calcium, phosphorus, copper, total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides, alkaline phosphatase, transaminases and carnitine. A preliminary statistical analysis indicated that most information content could be maintained taking into consideration only five of these variables. A factor analysis of the resulting 5 x 128 variables-by-subjects data matrix was then performed, identifying three factors (FB1, FB2 and FB3) that together explained 74% of total variance. Taking these factors as indicators of nutritional status, the data were then analysed for possible effects of age, gender, socioeconomic and family environment, IQ, presence/absence of cerebral palsy, quality of diet, appetite and use of antiepileptics. RESULTS: The analysis suggests that most subjects were in the normal nutritional range, but that about 37% showed either borderline or definite malnutrition. The FB1 score showed a significant, positive correlation with age, while FB2 score was negatively correlated with age. The FB1 score showed a significant positive correlation with socioeconomic class, and was significantly higher among children from inland-rural areas than among children from coastal or urban areas. The FB1 score was also positively correlated with parents' mean age. Finally, the results suggest that antiepileptic treatment with phenobarbital or diphenylhydantoin led to reductions in serum levels of calcium and phosphorus. CONCLUSION: Malnutrition as revealed by biochemical variables is highly prevalent among mentally retarded children, and the prevalence is affected by socioeconomic and family environment variables.

Child↗
PubMedDate not supplied

Hepatitis B vaccination in Down's syndrome and other mentally retarded patients.

The immune response after vaccination with H-B-VAX (20 micrograms, Months 0, 1 and 6) was investigated in 23 Down's syndrome patients and compared to that in 30 other mentally retarded patients and 32 staff members. About 90% of Down's syndrome and other mentally retarded patients and 100% of staff members had anti-HBs at Month 9, but anti-HBs less than 10 IU per liter were found in 6/23 (26.1%) of Down's syndrome, 7/30 (23.3%) of other mentally retarded patients, in contrast to 2/32 (6.2%) of staff members. No differences in anti-HBs response with regard to sex and age were observed in staff members, but geometric mean titers of anti-HBs were lower in older Down's syndrome and other mentally retarded patients, and in male Down's syndrome patients. Supplementary vaccination is necessary in these individuals to obtain "protective levels" of anti-HBs.

Adolescent↗
PubMed1987

Mild mental retardation in Gothenburg children born between 1966-70. Changes between two points of time.

Changes between two points of time in prevalence rates and distribution of IQ values in mentally retarded children resident in Gothenburg, Sweden, and born between 1966-70 were analysed. The children at the first census date in 1978 were aged 8-12 years and at the second in 1984 aged 14-18 years. The population-based prevalence rates were 3.7 per 1,000 in 1978 and 3.9 in 1984 for mild mental retardation (MMR; IQ 50-70) and 3.0 and 3.3 respectively for severe mental retardation (SMR; IQ less than 50). The majority (82%) of the MMR children remained on the same intellectual and educational level. The changes that occurred were mainly downwards. Thirteen of the 91 MMR children in the 1978 series demonstrated IQ values below 50 by 1984. Ten of these 13 children had a clear biomedical origin for their retardation, e.g. six with cerebral palsy syndromes. The IQ level of three MMR children had improved to 71-85. Nineteen newcomers were identified as MMR. 14 of these had IQ test scores above 70 in 1978 including one with cerebral palsy and 5 with minimal brain dysfunction syndromes. The prevalence of children registered in the Board for Provisions and Services to the Mentally Retarded, all IQ categories included, increased from 6.7 per 1,000 in 1978 to 8.1 in 1984. One third of this increase was due to the greater recording of youths with an IQ above 75.

Adolescent↗
PubMedDate not supplied

Establishing the manding function of communicative gestures with individuals with severe/profound mental retardation.

Procedures for teaching communicative gestures to individuals with mental retardation are focused mostly on establishing requesting or manding. It is often taken for granted that when a student has been taught to make a request, that he or she is indeed manding. Five students with severe/profound mental retardation accepted referents, regardless of whether the referents matched the gestures they made. Apparently, their responding could not be defined as manding. A correction procedure, including interruption, physical guidance, verbal instruction, and repetition, was then applied and increased the individuals' correct rejecting of unmatching referents. Data were collected within a multiple baseline design across individuals. It is suggested that assessing student's response when the trainer or teacher delivers items that do not match the referent of a prior request is a necessary part of each training program.

Adolescent↗
PubMed2004

An evaluation of in vivo desensitization and video modeling to increase compliance with dental procedures in persons with mental retardation.

Fear of dental procedures deters many individuals with mental retardation from accepting dental treatment. This study was conducted to assess the effectiveness of two procedures, in vivo desensitization and video modeling, for increasing compliance with dental procedures in participants with severe or profound mental retardation. Desensitization increased compliance for all 5 participants, whereas video modeling increased compliance for only 1 of 3 participants.

Adult↗
PubMed1991

Rett syndrome symptomatology of institutionalized adults with mental retardation: comparison of males and females.

Institutionalized adults with mental retardation (N = 297) were surveyed to determine the prevalence of symptoms of Rett syndrome. No symptom of the syndrome occurred more frequently in males than females. When symptoms were analyzed in clusters (e.g., severe mental retardation, no prenatal complications, walked before 15 months, and wide-based gait), no single cluster of symptoms appeared to differentiate males from females. However, as individuals, only females were found to meet the necessary criteria for a diagnosis of Rett syndrome. Symptoms were seen with equal frequency in this population and no one or two symptoms differentiated patients with and without Rett syndrome.

Adolescent↗