Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence of gastroesophageal reflux disease among institutionalised intellectually disabled individuals with an IQ < 50 is high: about 50% have an deviant 24-hour pH measurement and 70% of them have refluxoesophagitis. Intellectually disabled individuals have an increased risk of gastroesophageal reflux disease in case of cerebral palsy, IQ < 35, scoliosis, use of anticonvulsant drugs or benzodiazepines, not being ambulant, and in case of symptoms such as haematemesis, rumination or dental erosions. To establish the diagnosis is difficult because of the aspecific symptoms. Reflux disease is only diagnosed at a late stage. 24-hour pH measurement should be used in all those intellectually disabled individuals in whom gastroesophageal reflux disease is clinically suspected. For the treatment of gastro-oesophageal reflux disease in adults as well as children, proton pump inhibitors are highly effective, independent of the severity of oesophagitis. Marked improvement of symptoms and quality of life can be noticed after treatment.
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PMID:[Gastroesophageal reflux disease in mentally retarded persons: prevalence, diagnosis and treatment]. 1087 94

Gastroesophageal reflux disease (GERD) is an important and frequently occurring problem among intellectually disabled individuals (IDI). Early suspicion and recognition of the presence of GERD in IDI is the cornerstone of adequate management of these patients. The prevalence of GERD among institutionalized IDI with an IQ < 50 is about 50%, with 70% of these reflux patients having endoscopically established reflux esophagitis. In case of symptoms as hematemesis, rumination, or dental erosions, there is an increased risk for GERD. GERD has also been shown to be associated with cerebral palsy, an IQ < 35, scoliosis, and the use of anticonvulsant drugs or benzodiazepines. To establish the diagnosis, 24-h pH measurement or endoscopy should be used in all those intellectually disabled individuals in whom GERD clinically is suspected. The efficacy of proton-pump inhibitors (PPIs) in IDI with GERD is indisputable. In IDI, adults as well as children, PPIs are highly effective, independent of the severity of esophagitis. Marked improvement of symptoms and quality of life can be noticed after medical treatment, thereby decreasing the need for surgery in this complicated group of patients.
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PMID:Gastroesophageal reflux disease in intellectually disabled individuals: how often, how serious, how manageable? 1095 28

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.
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PMID:Natural history of aging in Cornelia de Lange syndrome. 1764 42