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Differing risk factors for cerebral palsy in the presence of mental retardation and epilepsy.

Whether the combined diagnosis of cerebral palsy with mental retardation or with mental retardation and epilepsy reflects more severe manifestations of the spectrum of cerebral palsy, or whether these conditions reflect overlapping outcomes related to different exposure, remains an open question. At two centers, in Rome and Conegliano, Italy, 51 children with combined cerebral palsy, mental retardation, and epilepsy, 31 children with both cerebral palsy and mental retardation, and 48 with cerebral palsy alone were identified and examined, and their mothers interviewed. The triple diagnosis group was significantly more likely than the other two groups to have a history of neonatal convulsions and a history of epilepsy in first-degree relatives, but less likely to have a mother's age at delivery greater than 33 years, a birthweight less than 1500 g, or gestational age less than 32 weeks. The dual diagnosis group was more likely than the other two groups to have maternal education of less than 8 years. These data suggest the possibility of different etiopathogenetic pathways for various presentations of cerebral palsy.

Adolescent↗

[Repercussion of mental retardation and associated cerebral palsy on skeletal maturation].

INTRODUCTION: Mental retardation (MR) constitutes a clinical and social relevant condition accounting for 3% of the pediatric population. Studies focusing the repercussion of MR on nutritional status are scarce and, in occasions, have produced contradictory results. OBJECTIVE: To evaluate the nutritional status of mentally retarded children in our Region, on the basis of skeletal maturation. PATIENTS AND METHODS: Our sample comprise 128 mentally retarded children (81 boys and 47 girls) aged 0 17 years. In all children a nutritional and social family environment questionnaires and a valuation of a series of nutritional and anthropometric variables were performed. Additionally, bone age was assessed by means of left hand wrist radiograph in a subset of 53 children. A factorial analysis was carried out by means of the statistical package SPSS allowing the obtaining of 2 anthropometric factors and 3 biochemical factors that condensed the most information content. Results of the bone maturation were correlated with age, sex, presence of cerebral palsy (CP), severity of mental retardation, results of nutritional and sociofamilial questionnaire, antiepileptic treatment and nutritional status (anthropometric and biochemical factors). RESULTS: Although a good correlation exists between bone age and chronological age, 50% of mentally retarded children presented delay in their skeletal maturation. The bone maturation was higher in the boys than in the girls. The presence of CP induced an increase of 12% in the delay of the skeletal maturation. The severity of MR induced differences in the bone age. Both quality of diet and score of anthropometric factor I inversely correlated with bone maturation delay. Parent s age and geographical precedence but not antiepileptic therapy affected the bone maturation. CONCLUSIONS: Delay in the bone maturation occurs with high prevalence among mentally retarded children. The presence of CP, severity of MR, quality of the diet and sociofamilial and nutritional factors influenced in an outstanding way in the bone maturation.

Adolescent↗

The PDD-MRS: an instrument for identification of autism spectrum disorders in persons with mental retardation.

The Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD-MRS) is described. The PDD-MRS is a simple classification and screening instrument devised for identification of autistic disorders (of the entire spectrum) in persons with mental retardation from mild to profound levels, age-range 2-55 years. The norms of the scale are based on the research protocols of 1230 Dutch persons with mental retardation. The scale's sensitivity for the entire normative sample was found to be 92.4%; calculated separately for persons at all levels of mentally retarded functioning, male and female persons, speaking and non-speaking persons and five age categories, the sensitivity figures range between 87.0 and 100.0%. The specificity of the scale is also 92.4%; for the aforementioned subgroups separately, the specificity figures range between 84.6 and 95.5%. Roughly similar values for sensitivity and specificity were found when using the scale with severely visually impaired/blind persons; severely hearing-impaired/deaf persons; persons with Down syndrome; male persons with fragile X syndrome. The original version of the PDD-MRS dates from 1990; since then the scale has been widely used in the Netherlands and Belgium. The PDD-MRS should be regarded as a useful instrument for identifying PDD in persons with mental retardation.

Adolescent↗

Increased blood lead levels in mentally retarded children in Greece.

In 60 children with mental retardation of unknown etiology, the whole blood lead, as well as the activity of the red cell delta-aminolevulinic acid dehydratase (delta-ALAD), was measured. Thirty normal children and 30 with mental retardation of known etiology were used as controls. The lead values were found significantly higher in the study patients compared with both control groups (P less than 0.001). The delta-ALAD activity in the 14 patients with blood lead levels greater than or equal to 40 microgram/dl, was significantly reduced compared with the normal controls (P less than 0.001) and the mentally retarded controls (P less than 0.01). In more than 20% of the patients with mental retardation of unknown etiology, indications of significant exposure to lead were found. There was no difference in blood lead values between children from cities and those from rural areas. The possible role of lead in the etiology of mental retardation is discussed.

Adolescent↗

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.

X-linked nonspecific mental retardation (MRX) accounts for approximately 25% of mental retardation in males. A number of MRX loci have been mapped on the X chromosome, reflecting the complexity of gene action in central nervous system (CNS) specification and function. Eleven MRX genes have been identified, but many other causative loci remain to be refined to the single gene level. In 21 MRX families, the causative gene is located in the pericentromeric region; and we report here the identification by linkage analysis of a further such locus, MRX81. The new MRX locus was identified by two- and multi-point parametric analysis carried out on a large Italian family. Tight linkage of MRX81 to DNA markers ALAS2, DXS991, and DXS7132 was observed with a maximum LOD score of 3.43. Haplotype construction delineates an MRX81 critical region of 8 cM, the smallest MRX pericentromeric interval so far described, between DXS1039 and DXS1216, and placing it in Xp11.2-Xq12. So far, automated sequencing of two candidates in the region, the MRX gene oligophrenin (OPHN1) and the brain-specific ephrinB1 (EFNB1) gene, in DNA from affected males excluded their candidacy for MRX81, suggesting a novel disease gene.

5-Aminolevulinate Synthetase↗

Clinical responses to psychopathology of mentally retarded persons.

Effects of the label "mentally retarded" on clinical judgment were examined. Doctoral level psychologists of varying orientations and levels of experience with mentally retarded persons were exposed to a brief therapy transcript that was labeled or unlabeled. Analyses of variance revealed that the mentally retarded label resulted in ratings of less severity of psychopathology, first treatment choices that were more behavioral in nature, and attributions of greater importance to the client's level of intellectual functioning in the assessment process. The results were interpreted as representing diagnostic labeling bias.

Attitude of Health Personnel↗

Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation.

Among several genetic diseases that comprise mental retardation, Angelman syndrome (AS) has been extensively recognized and investigated. In the general population, the syndrome occurs in about 1 in 20,000 live births and its prevalence in severely mentally retarded individuals is 1.4%. These figures, however, may be an underestimate, because of the variable phenotype of AS. The main objective of this work was to investigate AS patients among a group of mentally retarded subjects, using the methylation pattern of the SNRPN gene, as determined by Southern blotting molecular analysis. The molecular investigation of 75 institutionalized individuals with severe to profound mental retardation resulted in the detection of 1 case with an abnormal methylation pattern of the SNRPN gene, corresponding to AS. The patient's phenotype was classified as atypical, without outbursts of inappropriate laughter or a happy disposition; the patient would not have been diagnosed in the usual screens for AS, which only select patients who demonstrate the typical clinical findings characteristic of the disease.

Angelman Syndrome↗

Use of the Rorschach and Thematic Apperception Test in Persons With Mental Retardation.

The need to access the internal mental life of a patient during the diagnostic process is essential and is ordinarily accomplished through self-report data during the psychiatric diagnostic interview. Because of cognititve and verbal limitations, persons with mental retardation, however, are ill-equipped to fully participate in the psychiatric interview. The ability of projective tests to access the patient's inner mental life provides a very helpful diagnostic aid, especially for persons with mental retardation. Psychologists may erroneously assume that such patients may not be able to comply with the testing format. This article addresses the literature on this subject, as well as providing new research data on the use of these instruments from a psychiatric clinic population, and presenting relevant case examples. The Rorschach is especially useful in identifying psychotic processes and thought disorder in persons with mental retardation. The Rorschach and Thematic Apperception Test are also useful in providing generalized treatment planning, but also in identifying problems in aggression and sexually aberrant behavior. Guidelines for using projective tests will be given, as well as recommendations for the psychological evaluation of persons with mental retardation presenting with psychiatric disorder.

Journal Article↗

Penetrating keratoplasty in the mentally retarded.

Penetrating keratoplasty is infrequently performed in the mentally retarded due to the high risk of serious post-operative complications, in particular wound rupture and severe inflammation of the graft. Graft survival is hindered by the patient's tendency for eye rubbing and possibly self-inflicted injury. Adequate nursing support is essential to ensure strict compliance with post-operative treatment. A retrospective study of corneal graft outcomes in mentally retarded patients was undertaken to assess graft survival, visual rehabilitation, post-operative complications and the influence on social behaviour. Six cases of penetrating keratoplasty performed in mentally retarded patients by one surgeon are presented. A continuous 10-0 nylon suture was employed in all cases. In 2 cases surgery was undertaken following perforation of the globe in patients with Down's syndrome. The grafts were retained in all cases and 2 patients achieved reasonably good acuity, although formal visual acuity assessment in these patients is limited. Penetrating keratoplasty in mentally retarded patients is a potentially hazardous procedure and patients require close supervision and good support care. This series demonstrates that relatively successful outcomes can be obtained in some mentally retarded patients.

Adolescent↗

Guidelines from the consumer: improving consumer involvement in research and training for persons with mental retardation.

Consumer involvement of individuals with mental retardation in research and training was assessed. Twenty-two subjects with experience in research and/or training were interviewed to determine how professionals can encourage meaningful participation of persons with mental retardation in research and training activities. Results suggest that persons with mental retardation have participated in various roles in research and training but that there are many barriers to meaningful consumer involvement that have not been adequately addressed. Guidelines for professionals to foster meaningful consumer involvement in research and training activities were provided.

Adult↗

Health care decision-making by adults with mental retardation.

Abilities of adults with mild, moderate, or no mental retardation to understand hypothetical treatments was investigated using the Assessment of Consent Capacity-Treatment developed for this study based on Appelbaum and Roth's psycholegal consent standards. Performance in all groups decreased with increasing psycholegal complexity of consent decision-making. Most adults with mild and no mental retardation and almost half of adults with moderate mental retardation were able to make and justify treatment choices and fully or partially understand treatment information. Most adults without mental retardation, 50% with mild, and 18% with moderate mental retardation were able to partially appreciate relevance of treatment choice to patient's situation and weigh treatment risks against benefit. Implications of findings for patient rights are discussed.

Adult↗

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

An X-linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance, triangular in shape with a high forehead, prominent ears, and a small pointed chin. Linkage analysis located the gene at Xp22 with maximum lod scores of 4.8 at theta = 0.0 for markers mapping between the closest recombination points at DXS7104 and DXS418. The physical length of this region is approximately 6 Mb. Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position.

Age Factors↗

Antiepileptic drug status in adult outpatients with mental retardation.

Charts of 100 patients with mental retardation and epilepsy from the community were reviewed to survey use of antiepileptic drugs and examine the relation of mental retardation and seizure type to antiepileptic drug status. Sixty patients were on monotherapy and 40, on two or three antiepileptic drugs. Most subjects had generalized tonic-clonic seizures (68%), but there was a trend for those with profound retardation to have relatively more mixed seizures. Subjects on more than one antiepileptic drug were less likely to have fully controlled seizures (50%). Individuals with mixed seizures were comparatively more likely to be on more than one antiepileptic drug and have uncontrolled seizures. Implications for clinical management of epilepsy in adults with mental retardation were discussed.

Adolescent↗

Pathological left-handedness and familial sinistrality in relation to degree of mental retardation.

The relationship between personal and familial hand preference and mental retardation was examined. Six unimanual tasks were performed by 232 subjects within four mental retardation severity groups. Family handedness histories were obtained. Right hand preference varied inversely with severity of mental retardation. The handedness of mentally retarded groups at the different functional levels paralleled, but tended much more to the sinistral, than that of the corresponding parent groups. The parent-proband handedness correlations were largely insignificant, especially in lower functioning groups. The findings support both pathological left-handedness theory and an association between brain damage causing mental retardation and familial sinistrality.

Brain Damage, Chronic↗

Cytogenetics study in severely mentally retarded patients.

OBJECTIVE: To study the frequency of chromosomal abnormalities in severely mentally retarded Iraqi patients. Secondly, to determine the types of chromosomal abnormalities that play a major role in the causation of mental retardation and to compare our results with those reported elsewhere. METHODS: Twenty one patients with severe mental retardation were subject to chromosomal analysis. The lymphocyte culture was carried out according to standard methods. RESULTS: Fourteen of the subjected mentally retarded patients had chromosomal abnormalities, 13 autosomal abnormalities, and only one had sex chromosomal abnormalities. However, structural autosomes were found to be the most prominent abnormalities and only 2 patients were demonstrated to have diagnosable syndrome. CONCLUSION: Chromosomal abnormalities are an important cause of mental retardation and its frequency increased with the severity of mental retardation. We concluded that chromosomal studies in mentally retarded patients help in accurate diagnosis and proper prognosis followed by genetic counseling and management rehabilitation.

Adolescent↗

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Nonsyndromic mental retardation (NSMR) is the diagnosis of exclusion in mentally retarded individuals without additional abnormalities. We have recently identified a protein-truncating mutation, G408fsX437, in the gene CC2D1A on chromosome 19p13.12 in nine consanguineous Israeli Arab families with severe autosomal recessive NSMR, and have developed a comprehensive prevention program among the at-risk population in the village. The subjects tested were healthy women who were invited to undergo the genetic screening test as a part of their routine pregnancy monitoring. One hundred and seventeen subjects reported a family history positive for mental retardation. We tested 524 pregnant or preconceptional women and found 47 carriers (approximately 1/11), whose spouses were then recommended to undergo testing. We identified eight carrier couples, who were given genetic counseling and offered prenatal diagnosis. Of all the marriages, 28.6% were consanguineous; 16.5% of the total were between first cousins. The high prevalence of the mutation can be explained both by the founder effect owing to the generally high consanguinity rate among the inhabitants of the village, and also because two families with excessive numbers of mentally retarded offspring were unacceptable as marriage partners by the rest of the families. This is the first example of the establishment of a large-scale genetic screening program for autosomal recessive NSMR, which was made possible owing to the high frequency of the specific causative mutation in this isolated population.

DNA-Binding Proteins↗

Architectural features and perceptions of community residences for people with mental retardation.

Architects, group home administrators, people with mental retardation, family members of people with mental retardation, and college undergraduates substantially agreed regarding the rated homelikeness of slides of interiors of 20 community residences for people with mental retardation ranging from institutional to homey, mean r = .87. Clusters of physical features identified using an architectural inventory were found to be associated with homelikeness ratings. Adjectives applied to rooms with these features were determined using a Q-sort method. Two factors were identified from Q-sort correlations: Homelikeness-Institutionality and Spatial Organization as well as a third variable, privacy.

Adolescent↗

Medical care of the mentally retarded.

A physician providing medical services to a mentally retarded child must be prepared to deal not only with individuals who have multiple physical, mental and emotional problems, but also to help families' attempts to cope with an often bewildering array of service providers. The physician must know when to relate to the patient's needs on the basis of mental age and when to relate on the basis of chronological age; he must recognize the lifelong nature of the disability or disabilities with changing manifestations and needs as the individual grows older; he must be aware of the high incidence of certain types of associated problems or pathology in this population; and he must acknowledge, understand and overcome his own feelings of inadequacy, impatience and discomfort in dealing with the mentally retarded. The mentally retarded individual and his family must know where and how to obtain services; they must try to evaluate, hopefully with the guidance of concerned and knowledgeable physicians, which service need takes precedence at a particular time. They must keep in mind that routine medical care should not be neglected in the pursuit of specialty care, while, through it all, keeping things in their proper perspective.

Adolescent↗