These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and the genetic counseling provided. Therefore, this report offers guidance for this situation as well.

Health Supervision for Children With Down Syndrome

The family physician's holistic approach to patients forms the basis of good health care for adults with Down syndrome Patients with Down syndrome are likely to have a variety of illnesses, including thyroid disease, diabetes, depression, obsessive-compulsive disorder, hearing loss, atlantoaxial subluxation and Alzheimer's disease In addition to routine health screening, patients with Down syndrome should be screened for sleep apnea, hypothyroidism, signs and symptoms of spinal cord compression and dementia Patients with Down syndrome may have an unusual presentation of an ordinary illness or condition, and behavior changes or a loss of function may be the only indication of medical illnesses Plans for long-term living arrangements, estate planning and custody arrangements should be discussed with the parents or guardians Because of improvements in health care and better education, and because more people with this condition are being raised at home, most adults with Down syndrome can expect to function well enough to live in a group home and hold a meaningful job

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Health care management of adults with Down syndrome.

The morphology and natural history of childhood cataracts.

A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications.

Over the past 20 years, there has been an increased emphasis on health promotion, including prevention activities related to vision and oral health, for the general population, but not for individuals with intellectual disability (ID). This review explores what is known about the prevalence of vision problems and oral health conditions among individuals with ID, presents a rationale for the increased prevalence of these conditions in the context of service utilization, and examines the limitations of the available research. Available data reveal a wide range of prevalence estimates for vision problems and oral health conditions, but all suggest that these conditions are more prevalent among individuals with ID compared with the general population, and disparities exist in the receipt of preventive and early treatment for these conditions for individuals with ID. Recommendations for health improvement in these areas include better health planning and monitoring through standardized population-based data collection and reporting and increased emphasis on health promotion activities and early treatment in the healthcare system.

https://www.onlinelibrary.wiley.com/doi/pdf/10.1002/mrdd.20096

Vision and oral health needs of individuals with intellectual disability.

Fifty-five patients with Down's syndrome were examined to evaluate the characteristics and frequency of ocular findings. Of these patients, 29 (52.7%) were hypermetropes, 7 (12.7%) were emmetropes, and 7 (12.7%) were myopes; astigmatism of more than 3.00 diopters was present in 7(12.7%) patients. Strabismus was observed in 12 (21.8%) patients. All but one of these 12 patients also had esotropia. Congenital nasolacrimal duct obstruction was present in 12 subjects (21.8%). Blepharitis was found in 19 (34.5%) cases. Nystagmus occurred in 7 (12.7%) patients. Brushfield spots were detected in only 20 (36.3%) of the patients and were more common in light-colored irides. Lens opacities were diagnosed in 11 (20%) patients, and two underwent successful cataract surgery. On fundus examination, an increased number of retinal vessels crossing the optic nerve head was detected in 21 (38.1%) cases. One of the patients had a retinal detachment. Significant but correctable ocular problems are present in patients with Down's syndrome and may interfere with the quality of life of the patient and with binocular vision. Surgical intervention may be needed for strabismus and for cataracts.

Erçal

Papers

Ocular findings in 55 patients with Down's syndrome.