Optimizing health care for individuals with Down syndrome in Israel. 2009

Isaiah D Wexler, and Abdulsalam Abu-Libdeh, and Yael Kastiel, and Alon Nimrodi, and Eitan Kerem, and Ariel Tenenbaum
Department of Pediatrics, Hadassah University Medical Center, Mount Scopus Campus, Jerusalem, Israel.

BACKGROUND Down syndrome is one of the most common chromosomal abnormalities. Children and adults with DS have significant medical problems and require life-long medical follow-up. OBJECTIVE To determine the adequacy of medical surveillance of individuals with DS as recommended by the American Academy of Pediatrics. METHODS The study was conducted at a multidisciplinary center specializing in the care of DS during the period 2004-2006. At their first visit to the Center, caregivers of individuals with DS were questioned about the medical status of their child including previous evaluations. Medical records brought in by the parents were reviewed. RESULTS The caregivers of 150 individuals with DS (age ranging from newborn to 48-years-old, median age 5 years) were interviewed and the medical records were reviewed. The prevalence of specific medical problems differed between our population and the reported prevalence from other surveys. For example, 39.3% of our population had documented auditory deficits while the reported prevalence is 75%. For gastrointestinal and thyroid disease, the prevalence was higher in the studied population than that reported in the literature. In terms of compliance with the AAP recommendations, most children (94%) underwent echocardiography, but only 42.7% and 63.3% had been tested for auditory or visual acuity respectively. Only 36.3% over the age of 3 years had cervical spine films. CONCLUSIONS Many individuals with DS are not receiving appropriate medical follow-up and the consequences of inadequate surveillance can be serious.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007557 Israel A country in the Middle East, bordering the Mediterranean Sea, between Egypt and Lebanon. The capital is Jerusalem.
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003955 Diagnostic Tests, Routine Diagnostic procedures, such as laboratory tests and x-rays, routinely performed on all individuals or specified categories of individuals in a specified situation, e.g., patients being admitted to the hospital. These include routine tests administered to neonates. Admission Tests, Routine,Hospital Admission Tests,Physical Examination, Preadmission,Routine Diagnostic Tests,Admission Tests, Hospital,Diagnostic Test, Routine,Diagnostic Tests,Examination, Preadmission Physical,Preadmission Physical Examination,Routine Diagnostic Test,Test, Routine Diagnostic,Tests, Diagnostic,Tests, Hospital Admission,Tests, Routine Diagnostic,Admission Test, Hospital,Admission Test, Routine,Diagnostic Test,Examinations, Preadmission Physical,Hospital Admission Test,Physical Examinations, Preadmission,Preadmission Physical Examinations,Routine Admission Test,Routine Admission Tests,Test, Diagnostic,Test, Hospital Admission,Test, Routine Admission,Tests, Routine Admission
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females

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