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PubMed1999

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities.

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare autosomal recessive disorder with varied expression, from severe hypoglycemia and possible sudden infant death to neurosensory deficits secondary to the acute onset. The neurosensory deficits can include clinical features such as seizure disorders, mental retardation, neuropathy, and retinopathy. The basic defect is the lack of the LCHAD enzyme in the liver, which is necessary for fatty acid metabolism. The condition is usually precipitated by infection and dehydration. A case example of a preschooler with LCHAD deficiency is presented to show the complexity of this disorder and resultant developmental disabilities. Implications for nursing practice, education, and research are discussed in relation to the needs of families with complex, developmental disabilities.

3-Hydroxyacyl CoA Dehydrogenases↗

PubMed1999

Is maternal age a risk factor for mental retardation among children?

The purpose of this study was to determine whether older or very young maternal age at delivery is associated with mental retardation in children. Ten-year-old children with mental retardation (an intelligence quotient of 70 or less) were identified in 1985-1987 from multiple sources in the metropolitan Atlanta, Georgia, area. These children were subdivided into two case groups according to whether they had concomitant developmental disabilities or birth defects affecting the central nervous system (codevelopmental retardation) or did not have such disabilities (isolated retardation). Control children were randomly chosen from the regular education files of the public school systems in the study area. Data on sociodemographic variables were gathered from birth certificates. Children of teenaged mothers were not at increased risk for either form of retardation and children of mothers aged > or =30 years were not at increased risk for isolated retardation, in comparison with children of mothers aged 20-29 years. A markedly elevated risk of codevelopmental retardation was seen among black children of mothers aged > or =30 years that was not attributable to Down syndrome. A modest increase in risk for codevelopmental retardation was observed among white children born to older mothers, but it was entirely due to Down syndrome.

Adolescent↗

PubMed1990

Abnormal involuntary movements and chronic schizophrenic disorders.

We hypothesized that chronic schizophrenic patients with abnormal involuntary movements would exhibit specific psychopathological, neurological, and cognitive disturbances at a more severe level than those free of such movements. Twenty-two chronic schizophrenic patients were assessed for abnormal movements, cognitive impairment, psychopathology, and medication history. Unequivocal evidence of movement abnormality on the Abnormal Involuntary Movement Scale divided the subjects into groups with (n = 13) and without (n = 9) involuntary movement anomaly. Age, education, length of illness, depressive symptoms, total symptom ratings, and medication variables did not differ in the two groups. However, the group with involuntary movements had more negative symptomatology, greater impairment on voluntary motor tasks, lower premorbid intelligence, and a trend toward poorer recall on mental status examination. These results demonstrate that schizophrenic patients with abnormal involuntary movements have more severe psychopathology as reflected in certain defect symptoms, more abnormal voluntary movements, and more cognitive impairment than schizophrenic patients without involuntary movements.

Adult↗

PubMed2006

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known. The diagnosis is based on the presence of the clinical manifestations. Genetic counselling is according to X-linked recessive inheritance. Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders.

Adolescent↗

PubMed1979

Commitment to nursing.

After a discussion of models of nursing, the author focuses on what nurses are and argues that their perceptions are significantly different from those of medical practitioners. The commitment of nurses is discussed, debated and explored and some values shared between newly qualified nurses and the lay public. Commitment is put into the prespective of 'accountability' and its effects on assessing quality of care and nurse-patient relationships are discussed. The author also argues that in certain circumstances she would contemplate defecting from 'being a nurse', particularly with regards to her personal concern for the mentally disordered. But the message that pervades the paper is that once one is a nurse, one is a nurse forever. Finally researchers are admonished to strive for 'an elucidation of the nature of commitment'.

Education, Nursing↗

PubMed1994

Huntington's disease: update and review of neuropsychiatric aspects.

OBJECTIVE: This article presents a general update on Huntington's disease (HD) and reviews the psychiatric and cognitive features of this disorder. METHOD: HD is discussed in five sections: an introduction and update, the psychiatric aspects, the cognitive aspects, brain-behavior relationships, and the differential diagnosis and management. RESULTS: Recent advancements in HD include the identification of presymptomatic testing methods and HD gene defect, structural and metabolic neuroimaging findings, and a neuropsychological profile. HD is associated with mood disorders, personality changes, irritable and explosive behavior, a schizophrenia-like illness, suicidal behavior, sexuality changes, and specific cognitive deficits. CONCLUSIONS: HD results in organic mental disorders from dysfunction of prefrontal-subcortical circuits coursing through the caudate nuclei. The diagnosis of HD is aided by genetic testing, neuroimaging, and neuropsychological testing. Management involves education, genetic counseling and psychotropic medications. Finally, the future of HD holds promise for the development of rational, neurobiologically-based treatments and genetically engineered therapies.

Adult↗

PubMed1995

Physicians and the communication of "bad news": parent experiences of being informed of their child's cleft lip and/or palate.

OBJECTIVE: Physicians often are called on to deliver "bad news" in the form of a diagnosis with unhappy implications. Few guidelines exist for practitioners who wish to meet patient and family expectations for clear and caring communication. To develop recommendations for physicians, this study was undertaken to document how biologic parents of children born with a specific, non-life-threatening birth defect perceive the encounter with a physician during which they were informed of their children's diagnosis. The study also examines parental preferences for how this communication might best be managed and compares those with parent reports of their actual experiences. METHODOLOGY: Biologic parents of children born with cleft lip and/or palate (n = 100) were studied with a self-administered questionnaire about the diagnostic encounter in which they rated theoretically derived dimensions of physician communication. Their experiences, as well as their preferences for communication in a hypothetical case, were compared through the use of ratings and open-ended qualitative narratives. RESULTS: Parents learned the diagnosis at birth (90%) from a physician (96%). Many report positive experiences, but there are significant differences between what parents experienced and what they desire in the informative interview. Parents wanted more opportunity to talk and to show their feelings and wanted the physician to try harder to make them feel better. As compared with their experiences, parents indicated a desire to have more information and more of a discussion about the possibility of mental retardation. They wanted the physician to show more caring and confidence, and wanted more referral to other parents, than they had experienced. Dimensions of physician behavior were more positively perceived by parents who were informed by a physician whom they felt they knew well. CONCLUSIONS: It is possible for physicians to effectively deliver bad news, such as the diagnosis of a birth defect, to parents. This study suggests specific communicative and educational approaches that are likely to improve parental satisfaction with such physician communications.

Cleft Lip↗

PubMed1983

Effects on the regional cerebral blood flow of long-term exposure to organic solvents.

Regional cerebral blood flow (rCBF, 133Xe inhalation method) was measured in 50 male paint-factory workers with a mean of 18 years of exposure to a mixture of organic solvents. A group of 50 workers in a sugar-refinery, matched for age and education, served as controls. The measurements were made during resting and during activation by mental tasks (4%; P less than 0.05) in the exposed group. Largest differences were seen in frontotemporal areas. The difference between the exposed group and and controls increased at higher dose levels. The largest rCBF-increases during mental activation were seen in the exposed group, especially in the highest exposed subjects. This finding might indicate mechanisms compensating for a somewhat defective brain function. Although the differences between the groups were generally small with considerable overlap, the results give some evidence of disturbances of brain blood flow and brain function likely related to the influence of organic solvents.

Adult↗

PubMed2006

Validation of self-reported proximity to agricultural crops in a case-control study of neural tube defects.

Self-reported perinatal exposures to chemicals or pollutant sources in case-control studies of birth defects may be inaccurate due to misreporting among mothers. In a case-control study of neural tube defects delivered in California in 1987-1988, mothers of case and control infants were asked whether they lived within 0.25 mile (400 m) of agricultural crops. Responses were compared against a gold standard derived from historical agricultural land-use survey maps. The odds ratio for self-reported proximity to any crops (1.62, 95% confidence interval: 1.08, 2.43) appeared to be positively biased compared with the estimate for map-based proximity (1.17, 95% confidence interval: 0.79, 1.71). This pattern was also observed for proximity to specific crops such as nonpermanent and orchard crops. For vineyards, however, we observed an increased risk associated with map-based proximity (odds ratio=2.45, 95% confidence interval: 1.08, 5.58) but not with self-reported proximity (1.09, 95% confidence interval: 0.51, 2.34). The sensitivity of self-reported proximity to any crops was greater for case (65.7%) than control mothers (50.0%) while specificity was about the same for case and control mothers (87.5 vs. 89.3%), suggesting that control mothers under-reported proximity to crops. Differential reporting was also observed between geographic regions, urban and rural residents, and across levels of maternal employment and education. These results suggest differential reporting between case and control mothers as well as an influence from maternal demographic characteristics on reporting accuracy.

Adolescent↗

PubMedDate not supplied

Periventricular leukomalacia: an important cause of visual and ocular motility dysfunction in children.

The immature visual system in infants born preterm is vulnerable to adverse events during the perinatal period. Periventricular leukomalacia affecting the optic radiation has now become the principal cause of visual impairment and dysfunction in children born prematurely. Visual dysfunction is characterized by delayed visual maturation, subnormal visual acuity, crowding, visual field defects, and visual perceptual-cognitive problems. Magnetic resonance imaging is the method of choice for diagnosing this brain lesion, which is associated with optic disk abnormalities, strabismus, nystagmus, and deficient visually guided eye movements. Children with periventricular leukomalacia may present to the ophthalmologist within a clinical spectrum from severe cerebral visual impairment in combination with cerebral palsy and mental retardation to only early-onset esotropia, normal intellectual level, and no cerebral palsy. Optimal educational and habilitational strategies need to be developed to meet the needs of this group of visually impaired children.

Brain↗

PubMed1991

[Problem of rehabilitative correction of mental defects in children with schizophrenia].

Problems of rehabilitative correction of defect conditions associated with schizophrenia that had occurred in early childhood remain little studied. After the disease attacks the schizophrenic children usually develop severe defect conditions. With no rehabilitation provided to such children, the defect gravity increases due to super-addition of secondary retardation of mental development. The characteristic features of defect conditions were investigated on a material of the follow-up of 75 persons who had suffered schizophrenic attacks of varying structure at the age under 3 years. A complex of measures for their rehabilitation has been elaborated.

Child↗

PubMed2000

Visuoperceptual impairment in dementia with Lewy bodies.

BACKGROUND: In dementia with Lewy bodies (DLB), vision-related cognitive and behavioral symptoms are common, and involvement of the occipital visual cortices has been demonstrated in functional neuroimaging studies. OBJECTIVES: To delineate visuoperceptual disturbance in patients with DLB in comparison with that in patients with Alzheimer disease and to explore the relationship between visuoperceptual disturbance and the vision-related cognitive and behavioral symptoms. DESIGN: Case-control study. SETTING: Research-oriented hospital. PATIENTS: Twenty-four patients with probable DLB (based on criteria of the Consortium on DLB International Workshop) and 48 patients with probable Alzheimer disease (based on criteria of the National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer's Disease and Related Disorders Association) who were matched to those with DLB 2:1 by age, sex, education, and Mini-Mental State Examination score. MAIN OUTCOME MEASURES: Four test items to examine visuoperceptual functions, including the object size discrimination, form discrimination, overlapping figure identification, and visual counting tasks. RESULTS: Compared with patients with probable Alzheimer disease, patients with probable DLB scored significantly lower on all the visuoperceptive tasks (P<.04 to P<.001). In the DLB group, patients with visual hallucinations (n = 18) scored significantly lower on the overlapping figure identification (P = .01) than those without them (n = 6), and patients with television misidentifications (n = 5) scored significantly lower on the size discrimination (P<.001), form discrimination (P = .01), and visual counting (P = .007) than those without them (n = 19). CONCLUSIONS: Visual perception is defective in probable DLB. The defective visual perception plays a role in development of visual hallucinations, delusional misidentifications, visual agnosias, and visuoconstructive disability charcteristic of DLB.

Aged↗

PubMed2004

A pilot community intervention for young women with fetal alcohol spectrum disorders.

Fetal Alcohol Syndrome, a permanent birth defect caused by maternal alcohol use during pregnancy, is a leading preventable cause of mental retardation. Neuropsychological deficits have been well documented, however interventions developed have not been evaluated. We describe a successful 12-month community pilot intervention with 19 young women with Fetal Alcohol Spectrum Disorders (FASD). Improved outcomes (including decreased alcohol and drug use, increased use of contraceptives and medical and mental health care services, and stable housing) were obtained by implementing a community intervention model of targeted education and collaboration with key service providers, and by using paraprofessional advocate case managers as facilitators.

Adolescent↗

PubMed1994

Early intervention for preschoolers with developmental delays: the case for increased child collaboration.

In this article are analyzed the four following premises that explain why early intervention programs for preschool children with mental retardation (and other disabilities) have tended to adopt a teacher-directed "cultural transmission" or remedial model of education, whereas preschool programs for children without disabilities have generally preferred a more child-directed "developmental" model. (1) The purpose of early intervention is to accelerate and remediate, rather than support, cognitive growth. (2) Learning and accountability are maximized by specific instructional objectives written into educational plans rather than by encouraging children's own constructivist efforts. (3) Children with retardation are defective, not just slow but otherwise normal and so require extensive adult direction. (4) Research findings are favorable rather than ambiguous towards demonstrating the effectiveness of existing instructional methods. The four premises are reviewed and critiqued. It is concluded that there is sufficient doubt about the cultural transmission remedial model to justify further expansion of the developmental approach in early intervention programs, at least for some children in some areas. Changes in attitudes and practices that such an expansion would entail are discussed.

Child, Preschool↗

PubMedDate not supplied

Preventive health services: Sexually transmitted disease control.

Over 10 million cases of sexually transmitted diseases (STD) occur annually, 86 percent of them in 15- to 29-year-olds. The most common STDs are trichomoniasis, gonorrhea, non-gonococcal urethritis, genital herpes, and syphilis. In 1950 the reported syphilis rate was 146 per 100,000. The rate decreased to 30 per 100,000 by 1978, resulting in approximately 80,000 new cases of syphilis a year. During the same time span the gonorrhea rate increased from 192 cases per 100,000 to 468 cases per 100,000. In each year between 1967 and 1976, reported cases of gonorrhea increased between 10 and 15 percent. Between 1976 and 1978 the annual increase was less than 1 percent, but the total number of case of gonorrhea still exceeded 2.5 million. In addition to the large number of syphilis and gonorrhea cases, 3 million cases of trichomoniasis, 2.5 million cases of non-gonococcal urethritis, and 500,000 cases of genital herpes occur annually. The most serious complications caused by sexually transmitted agents are pelvic inflammatory disease, sterility, infant pneumonia, infant death, birth defects, and mental retardation. There is clear evidence that both the quality of the services and the attitudes with which they are delivered are important in attracting those who need STD services. While existing programs are interrupting the transmission of syphilis and gonorrhea, many vulnerable groups are not yet being served. To approach them effectively will require not only the efforts of STD clinics and investigators but also those of family planning clinics, private physicians, diagnostic and public health laboratories, and schools and other educational institutions.

Adolescent↗

PubMed2002

The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.

As patients with inborn errors of metabolism survive longer, understanding of potential medical and psychiatric complications adolescence and adulthood has increased. In general, detailed therapeutic guidelines for specific metabolic disorders are not available, and medical management must be tailored to the individual patient. Close interaction between the biochemical genetics clinic staff, primary care physician, mental health professional, and other specialists is necessary to formulate an integrated care plan. The education of the patient and family is a critical function of the biochemical genetics clinic, and transition from dependence on parents or other care providers to full independence is gradual. The ultimate goal is for the patient to have the essential knowledge and motivation required to cope responsibly with dietary and medical therapeutic regimens by adolescence or early adulthood. Specific illustrative inborn errors of metabolism are discussed (aminoacidemias, urea cycle defects, organic acidemias, fatty acid oxidation defects, disorders of carbohydrate metabolism, lysosomal storage disorders) in light of potential problems encountered in adolescence and adulthood, including issues involving pregnancy and long-term medical, psychosocial, and psychiatric complications.

Adolescent↗

PubMed1975

History of mental health services in South Africa. Part X. Institutions for defectives.

The first Government institution for mental defectives was opened at Maitland in the Cape, in 1921, and was named the Alexandra Institution. A second, Witrand, was opened at Potchefstroom in 1923. A third was opened at Howick in Natal, in 1949, and was called the Umgeni Waterfalls Institution. A fourth, at Westlake in the Cape, was opened in 1962 and houses Coloured patients. Over 1 000 defectives are cared for in private institutions.

Education of Persons with Intellectual Disabilitie↗

PubMed1976

Long-term prognosis of epilepsy in children--a follow-up report beyond 18 years of age.

The long-term prognosis of 185 children with epilepsy, who continued to attend the Clinic for Epileptic Children, the Department of Pediatrics, the University of Tokyo, beyond the age of 18 years, was reported. The length of follow-up varied from three to 20 years, but most of them were followed longer than 10 years. The presumed etiology in these children was divided into a cryptogenic group (124, 67.0%) and a symptomatic group (61). The types of seizures were classified into grand mal (86 cases), focal seizure (27), petit mal absence (4), psychomotro seizure (5), infantile spasms (7), and so on. It may be noted that the highest frequency of grand mal was demonstrated, while the incidences of infantile spasms, myoclonic seizure, and akinetic seizure were low in the series. Only 28 children (15.1%) had complications of physical and/or mental handicaps. The follow-up study revealed that 140 patients (75.7%) had been seizure-free in the last 12 months. One hundred and fifteen of them had no seizures for five years or longer. On the other hand, electroencephalographic abnormalities generally continued for a long time after disappearance of seizures. Eightly-one of well-controlled patients were gradually decreasing the doses of anticonvulsants. As for seizure types, it is noted that focal seizure, psychomotor seizure, and infantile spasms were relatively difficult to be controlled. Except for 27 patients, most of them attended normal schools, including junior colleges or universities, and engaged in various occupations. Fifteen female patients had already married, and out of 13 babies who were born from these patients, there were one with ventricular septal defect, one with mental deficiency, and one with anencephaly, while the rest were entirely normal. Additional problems on withdrawal of anticonvulsants after a long-term seizure-free period, and what a medical system should be for treatment of epilepsy in children up to their adulthood were discussed.

Adolescent↗