People with mental retardation have an increased prevalence of osteoporosis: a population study.

Prevalence of and risk factors for osteoporosis in a community population of 94 young adults with mental retardation was examined. Results show lower bone mineral density in this group than in an age-matched reference population. Factors associated with low bone mineral density included small body size, hypogonadism, and Down syndrome in both genders and a high phosphate level in females. Low vitamin D levels were common in both genders, despite high levels of exposure to sunshine. A history of fracture was also common. Low bone mineral density and fracture were associated in females but not males. Because morbidity following fracture is likely to be more serious in this population, further investigation of osteoporosis and prevention strategies for both osteoporosis and fractures are important.

Manifestations in institutionalised adults with Angelman syndrome due to deletion.

Undiagnosed institutionalised patients were reviewed in an attempt to identify those with Angelman syndrome (AS). The aim was to test these patients for deletion of chromosome 15(q11-13) and to describe the adult phenotype. The selection criteria included severe intellectual disability, ataxic or hypermotoric limb movements, lack of speech, a "happy" demeanour, epilepsy, and facial appearance consistent with the diagnosis. Patients were examined, medical records perused, and patients' doctors contacted as required. Genetic tests performed included routine cytogenetics, DNA methylation analysis (with probe PW71B), and fluorescence in situ hybridisation (with probes D15S10, GABRbeta3, or SNRPN). A deletion in the AS region was detected in 11 patients (9 males and 2 females) of 22 tested. The mean age at last review (March 1996) was 31.5 years (range 24 to 36 years). Clinical assessment documented findings of large mouth and jaw with deep set eyes, and microcephaly in nine patients (two having a large head size for height). No patient was hypopigmented; 1/11 patients was fair. Outbursts of laughter occurred in all patients but infrequently in 7/11 (64%) and a constant happy demeanour was present in 5/11 (46%). All had epilepsy, with improvement in 5/11 (46%), no change in 4 (36%), and deterioration in 2 (18%). The EEG was abnormal in 10/10 patients. Ocular abnormalities were reported in 3/8 patients (37.5%) and 4/11 (36%) had developed kyphosis. Two had never walked. All nine who walked were ataxic with an awkward, clumsy, heavy, and/or lilting gait. No patient had a single word of speech but one patient could use sign language for two needs (food and drink). Our data support the concept that AS resulting from deletion is a severe neurological syndrome in adulthood. The diagnosis in adults may not be straightforward as some manifestations change with age. Kyphosis and keratoconus are two problems of older patients.

Prevalence of intellectual disability in northern Sydney adults.

The prevalence of intellectual disability, defined as IQ < 70, was determined in a population of adults aged 20-50 years who lived in the northern suburbs of Sydney, Australia. Case finding was carried out in the community, and all those ascertained were interviewed and psychometrically assessed. The overall prevalence was 3.31 per thousand with severe intellectual disability (IQ < 55) 2.19 per thousand and mild (IQ 56-70) 1.12 per thousand. Down's syndrome had a frequency of 0.96 per thousand. Thirty-eight per cent of the total group were living in institutional care.

Medical disorders of adults with mental retardation: a population study.

This study was conducted to determine the frequency of medical disorders in people with mental retardation. The prevalence of mental retardation among adults, ages 20 to 50 years, living in Northern Sydney, was determined, and 202 persons were randomly selected for medical examination. Compared to the local population, the study group had significantly increased cardiovascular risk factors, rate of medical consultation, rate of hospitalization, and mortality. The research sample had an average 5.4 medical disorders per person, half of which had not been detected previously. We concluded that the provision of health care to adults with mental retardation needs to be improved.

Caring for the developmentally disabled in the community.

As deinstitutionalisation programmes take effect, more and more developmentally disabled people are living in the community. They are becoming patients of general practitioners who need to be aware of some of their special health problems. Primary care of disabled people presents particular challenges and rewards for the interested family doctor.

"What's wrong with my child, doctor; do you think he is slow?".

Intellectual handicap is the most frequent of the chronic handicapping conditions of childhood. It is important to make the diagnosis early without unnecessary delay, and also to refer on for special services as soon as possible. The family doctor's role in recognition and treatment of intellectual handicap, and parental reaction to this diagnosis in their children is discussed in this article.