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Broad cognitive abilities of children with mental retardation: an analysis of group and individual profiles.

Group and individual broad ability profiles of children with mental retardation and a matched sample of children with average achievement was investigated through use of the 7 Cattell-Horn-Carroll (CHC) factor clusters from the Woodcock-Johnson III Tests of Cognitive Abilities. Results indicate that, as a group, the ranked performance of the children with mental retardation on the CHC factor clusters was largely consistent with the clusters' g loadings. When compared to average-achieving matches, the children with mental retardation scored lower on all CHC factor clusters, but the groups displayed different patterns of performance. Despite normative deficiencies in IQs, children with mental retardation demonstrated a wide range of performance across measures. Implications for assessment and diagnosis are discussed.

Adolescent↗

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.

X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone maturation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16.

Abnormalities, Multiple↗

Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.

X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism, large hands and large, folded ears. In the other family, macro-orchidism was not seen, possible because the boys were younger. Fragile site X chromosomes were also seen in three obligate carriers. A summary of earlier published cases of X-linked MR associated with the fragile X chromosome is given.

Abnormalities, Multiple↗

[The mentally retarded and the dental health services. Treatment needs and preventive strategies].

Mentally retarded individuals are, since 1984 a priority group for the Norwegian public dental health service. This group of patients may have many problems which affect oral health. Difficulties with feeding are common, as are various oral motor problems like rumination, bruxism, mouth breathing and drooling. The impaired oral function may cause retention of food, reduced self-cleaning from lips and tongue and long-term use of puree food. Obstipation is a common problem which is often treated with prunes, raisins or sweetened laxatives. In behaviour modification programs sweets are often used as rewards. Tooth cleaning may cause problems for many parents and caretakers due to lack of cooperation or anatomical malformation of oral structures or teeth. Dental treatment may also be difficult to perform. Recent research in Nordic countries supports earlier reports that mentally retarded individuals have a high incidence of plaque, periodontal disease and malocclusion. Caries does not seem to be a problem. Nevertheless, older individuals with mental retardation have more untreated caries and missing teeth than average. Early intervention with oral motor training and frequent regular preventive treatment (4 x per year) will reduce caries, periodontal disease, early tooth loss and the need for treatment under general anesthesia in the future.

Dental Care for Persons with Disabilities↗

[Knowledge about mental retardation among psychiatric residents].

BACKGROUND: Since the deinstitutionalisation reform in 1991, the general health services, including psychiatry, are expected to serve the needs of people with mental retardation. Studies have shown that users generally find the service provided by psychiatry unsatisfactory. One reason for this may be a lack of confidence on the part of psychiatrists to take on such work. We focus on whether future psychiatrists feel that they learn enough about this topic. MATERIAL AND METHODS: We asked 60 residents in psychiatry in various stages of their graduate medical education to evaluate their own knowledge or skills in 109 fields expected to be mastered by a specialist in psychiatry. Items with high relevance to mental retardation were compared with other items of similar relevance to psychiatric practice. RESULTS: The residents felt they lacked skills/knowledge in psychiatric and medicolegal fields mainly concerning people with mental retardation. In fields that were highly relevant for both general psychiatric practice and mental retardation the residents reported higher confidence. INTERPRETATION: The efforts during the reform process to secure psychiatric services for people with mental retardation are not reflected in the training of new psychiatrists or in their confidence in their ability to undertake such work.

Clinical Competence↗

Procedural and declarative memory processes: individuals with and without mental retardation.

Learning and retention of procedural versus declarative memory tasks were examined with 26 young adults with mild mental retardation and 27 school children matched for MA. Results revealed a similar pattern of task performance. Performance of the young adults with mild mental retardation was inferior to that of the control subjects on both types of tasks. However, learning rate and retention over time were comparable, thereby maintaining the control group's consistent advantage throughout all repeated trials. These results are consistent with previous findings for individual's with mental retardation tested on memory and problem-solving tasks. Theoretical implications of this pattern of results for individuals with mild mental retardation were discussed.

Adolescent↗

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Recently much attention has been given to the detection of submicroscopic chromosome rearrangements in patients with idiopathic mental retardation. We have screened 27 subjects with mental retardation and dysmorphic features for such rearrangements using a genetic marker panel screening. The screening was a pilot project using markers from the subtelomeric regions of all 41 chromosome arms. The markers were informative for monosomy in both parents at 3661902 loci (40.6%, 95% confidence interval 37.0-44.2%) in the 22 families where DNA was available from both parents. In two of the 27 subjects, submicroscopic chromosomal aberrations were detected. The first patient had a 5-6 Mb deletion of chromosome 18q and the second patient had a 4 Mb deletion of chromosome 1p. The identification of two deletions in 27 cases gave an aberration frequency of 7.5% without adjustment for marker informativeness (95% confidence interval 1-24%) and an estimated frequency of 18% if marker informativeness for monosomy was taken into account. This frequency is higher than previous estimates of the number of subtelomeric chromosome abnormalities in children with idiopathic mental retardation (5-10%) although the confidence interval is overlapping. Our study suggests that in spite of the low informativeness of this pilot screening, submicroscopic chromosome aberrations may be a common cause of dysmorphic features and mental retardation.

Adolescent↗

The Misdiagnosis of Hallucinations and Delusions in Persons with Mental Retardation: A Neurodevelopmental Perspective.

The identification of psychotic features in persons with mental retardation is challenging as the presence of hallucinations and delusions are disclosed through verbal self-report. In persons with mental retardation, self-report data is limited in utility because of the neuropsychological impairments that are uniformly reflected in limited communication and linguistic functions. Two major areas of misdiagnosis occur when interpreting reported hallucinations and delusions. First, the patient with mental retardation may experience a true hallucination or delusion, the content of which is very bizarre or disjointed, leading clinicians to identify schizophrenia or psychotic disorders when the condition is far less severe. Second, the patients's reported phenomena are not true hallucinations or delusions, but are instead self-talk, imaginary friends, or fantasy, similar to normal coping mechanisms of children. Mental health professionals must give priority to vegetative symptoms and mood states during the diagnostic assessment. It is also recommended that multiple sources of caregiver data be collected and that psychological projective testing be used as part of the evaluation process. Further, a false-positive strategy should be adopted when initiating treatment, favoring underdiagnosis of psychotic disorders.

Journal Article↗

Do some mental disorders occur less frequently among persons with mental retardation?

Distributions of psychiatric classifications among 42,479 persons with mental retardation were reviewed to determine whether relative rates of disorders for persons with both mental retardation and a mental disorder resembled those identified in other studies. Analyses conducted separately for children, adults, by sex, and by intellectual level indicated that rates of reported schizophrenic and psychotic disorders were generally higher than expected relative to rates of personality disorders, affective disorders, anxiety and phobic disorders, and behavior disorders. Factors that may have affected relative rates of identification were noted, and the need to develop more adequate assessment methodologies and conduct valid studies of population samples was underscored.

Adolescent↗

The integrated approach of yoga: a therapeutic tool for mentally retarded children: a one-year controlled study.

Ninety children with mental retardation of mild, moderate and severe degree were selected from four special schools in Bangalore, India. Forty-five children underwent yogic training for one academic year (5 h in every week) with an integrated set of yogic practices, including breathing exercises and pranayama, sithilikarana vyayama (loosening exercises), suryanamaskar, yogasanas and meditation. They were compared before and after yogic training with a control group of 45 mentally retarded children matched for chronological age, sex, IQ, socio-economic status and socio environmental background who were not exposed to yoga training but continued their usual school routine during that period. There was highly significant improvement in the IQ and social adaptation parameters in the yoga group as compared to the control group. This study shows the efficacy of yoga as an effective therapeutic tool in the management of mentally retarded children.

Adolescent↗

The biological origin of mild mental retardation. A critical review.

The prevailing theory that normal intelligence and mild mental retardation are determined by multiple additive genes is critically reviewed in the light of findings from recent population studies. Discrepancies between theoretical concepts and reported data are noted, particularly those concerning frequency of mild mental retardation, sex ratio, and additional somatic and psychiatric handicaps in populations with mild mental retardation.

Adolescent↗

Neurological impairments and sleep-wake behaviour among the mentally retarded.

The objective of the present study was to evaluate the relationship between the sleep-wake behaviour and neurological impairments among mentally retarded people. The sleep-wake behaviour of 293 mentally retarded subjects living in a rehabilitation center was studied by a standardized observation protocol carried out by trained staff members. The protocol consisted of brief check-ups of the subjects' sleep-wake status at 20-min intervals for five randomly chosen 24-h periods during 4 months. From the raw data five sleep-wake behaviour variables were formed. The data concerning the subject characteristics (age, body mass index (BMI), gender, degree of mental retardation, presence of locomotor disability, that of epilepsy, blindness or deafness and the usage of psychotropic medications) were collected from the medical records. Two main findings emerged: (1) severe locomotor disability, blindness and active epilepsy were found to be independent predictors of increased daytime sleep and increased number of wake-sleep transitions and (2) the subjects with a combination of two or all three of these impairments had a significantly more fragmented and abnormally distributed sleep than those with none or milder forms of these impairments. Age, BMI, degree of mental retardation and the studied medications played a minor role in the sleep disturbances of the study population. Finally, deafness was not found to be associated with any of the measured sleep-wake variables.

Adolescent↗

Misleading cues in the diagnosis of mental retardation and infantile autism in the preschool child.

The diagnosis of behavioral and cognitive disorders in preschool children is difficult. Infantile austism is more likely to be diagnosed than is mental retardation. Yet most children with infantile autism are also mentally retarded, and many of those with severe and profound mental retardation show autistic behavior. Factors misleading professionals into overlooking mental retardation when assessing preschool children were discussed, and essential components in the management of preschool children with behavioral, developmental, or cognitive deviations were examined.

Autistic Disorder↗

[Four siblings with becker muscular dystrophy (BMD) manifesting severe mental retardation].

A 33-year-old man with BMD manifesting severe mental retardation is reported. This patient has mild pseudohypertrophy in his calf muscles and showed an elevation of creatine kinase (CK) level in the serum (2215 IU/L). He was diagnosed as autistic at the age of three. His intellectual level was estimated to be two years old in social intelligence and four months old in speech ability at the age of 33. However his muscle strength remains within the normal range. All of his three siblings have similar symptoms, such as severe mental retardation and elevated CK level in the serum (1735-3641 IU/L) and lack apparent muscular weakness. Gene analyses by multiplex PCR and Southern blotting showed all of the siblings had the deletion of exon 4 in the dystrophin gene. Pathological findings of a muscle biopsy specimen showed a mild irregular dystrophin stain of the muscle surface membrane. This is a rare familial case of Becker muscular dystrophy manifesting severe mental retardation with scarce muscular weakness.

Adult↗

Lamotrigine as adjunctive therapy in patients with refractory epilepsy and mental retardation.

This study evaluated the effects of lamotrigine as adjunctive therapy for refractory epilepsy in patients with mental retardation. Patients with epilepsy and mental retardation having uncontrolled seizures despite treatment with other antiepileptic drugs were eligible (n=67). The open-label study comprised a Baseline Phase, an Escalation Phase during which lamotrigine was titrated to a target dose, an 8-week Maintenance Phase during which doses of lamotrigine and concomitant antiepileptic drugs were maintained, and a 12-week Optimization Phase during which doses of lamotrigine and other antiepileptic drugs could be adjusted. Almost half (44%) of patients experienced a 50% reduction in seizure frequency during the Maintenance Phase after addition of lamotrigine; 15% of patients became seizure-free. A similar pattern of results was reported for the Optimization Phase. Investigator-rated clinical status was improved relative to baseline in 66 and 74% of patients at the end of the Maintenance and Optimization Phases, respectively. Most patients experienced improvements in seizure frequency, duration, and intensity during the Maintenance Phase (62 to 72%) and the Optimization Phase (65 to 74%). Many patients were rated as having improved social functioning during the Maintenance Phase (42%) and the Optimization Phase (46%). The Aberrant Behavior Checklist score for lethargy and the mean Habilitative Improvement Scale score were improved at the ends of the Maintenance and Optimization Phases relative to baseline (P< or =0.04). One limitation of this study is its open-label design, which limits the ability definitively to attribute the clinical improvements to lamotrigine. Adjunctive lamotrigine in patients with refractory epilepsy and mental retardation appears to decrease seizure frequency and improve behavior while permitting a reduction in dose of concomitant antiepileptic drugs.

Adolescent↗

Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function.

Loss of fragile X mental retardation protein (FMRP) function causes the fragile X mental retardation syndrome. FMRP harbors three RNA binding domains, associates with polysomes, and is thought to regulate mRNA translation and/or localization, but the RNAs to which it binds are unknown. We have used RNA selection to demonstrate that the FMRP RGG box binds intramolecular G quartets. This data allowed us to identify mRNAs encoding proteins involved in synaptic or developmental neurobiology that harbor FMRP binding elements. The majority of these mRNAs have an altered polysome association in fragile X patient cells. These data demonstrate that G quartets serve as physiologically relevant targets for FMRP and identify mRNAs whose dysregulation may underlie human mental retardation.

Base Sequence↗

A form of X-linked mental retardation with marfanoid habitus.

A kindred has been studied in which mental retardation and marfanoid clinical features are present in several individuals. The pedigree is consistent with X-linked recessive inheritance. Four affected males aged 12-18 years and four obligate carriers have been identified. Clinical findings in the 4 affected males included a tall slender habitus (3) (the fourth was tall but muscular), a long-narrow face (3), large head (4), highly arched palate (4), small mandible (4), abnormal speech (4), hypernasal voice (3), joint hyperextensibility (3), borderline to large testes (3), pectus excavatum (2), atrial septal defect (1), and a double row of teeth (1). Mental retardation (4) ranged from mild to severe; abnormal behavior included hyperactive and aggressive behavior (2), autistic-like (1) and jovial behavior (1). One and possibly two, males had absence of the corpus callosum. Chromosome studies on all were normal; no marker X was observed. We believe this family probably represents a new form of X-linked mental retardation.

Abnormalities, Multiple↗

Word identification in adults with mild mental retardation: does IQ influence reading achievement?

OBJECTIVE: To assess the relationship between word identification and intelligence in adults with mild mental retardation (IQ < 80). METHOD: A standardized evaluation was administered to 67 adults with mild mental retardation. The evaluation included a psychiatric interview, the WAIS-R, and a 2-h interview with a speech therapist and reading tests. RESULTS: Causes of mental retardation were diverse in the sample, and IQ scores ranged from 43 to 79 (mean score = 64). All subjects exhibited reading impairment, including 69% with severe impairment. No subject with an IQ score under 65 was able to perform adequately in the word identification tasks. Word identification was correlated with total and verbal IQ, but not with performance IQ. CONCLUSION: Our results suggest that, in contrast to subjects with normal intelligence, IQ score is correlated with reading in subjects with mild mental retardation. Finally, remediation should be preferentially implemented for subjects with IQ score greater than 65.

Achievement↗