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In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.

Purpose: This study was undertaken with a view to establishing the occurrence of neuropsychiatric disorders in the 22q11 deletion syndrome. Methods: Thirty-two children and young adults with genetically confirmed 22q11 deletion were given comprehensive neuropsychiatric assessments. Results: Altogether, 56% had a neuropsychiatric disorder. Only 6% were of normal IQ and free of physchiatric disorder. Attention-deficit/hyperactivity disorder was diagnosed in 44% and 31% had an autism spectrum problem. In 16% criteria for both these diagnoses were met. Fifty-three percent had mental retardation, often with a test-profile suggesting a nonverbal learning disorder. Conclusion:The findings imply that a majority of children and adolescents with 22q11 deletion syndrome are in need of neuropsychiatric assessment and intervention. Genetics in Medicine, 2001:3(1):79 -84.

We have reinvestigated 92/101 children aged 10, who before the age of 2 years were admitted to a paediatric ward due to wheezing bronchitis. At the present time, 70% are symptom-free without medication, 20% have mild asthma, 8% moderate and 2% severe asthma. Persistent asthma correlated significantly to the presence of some other atopic disease in recent years, to early start of wheezing during infancy and to intense obstructive disease as a young child, while initial respiratory syncytial virus infection did not. A clear-cut relationship between smoking in the home in infancy and persistent asthma emerged (not visible at a preschool follow-up). The histamine challenge results correlated to the clinical picture. A normal histamine challenge was seen in 63%, mild hyperresponsiveness in 19%, moderate in 12% and pronounced hyperresponsiveness in 6%. The figures for persistent asthma and bronchial hyperresponsiveness are high compared with the prevalence of asthma in the overall population of schoolchildren.

Objectives. The aims of this study were to investigate and describe oral manifestations in 22q11 deletion syndrome, and to relate the findings to medical conditions. Design. Cross-sectional. Sample and Methods. Fifty-three consecutive patients from Sweden referred to the Sahlgrenska University Hospital during a 3-year period were included, median age 8 yrs (range 2-43; mean age 11·09). All but six patients were children 3-19-years-old. The patients were examined concerning oral mucosa, dental anomalies, dental caries, occlusal development, and eruption of the teeth. The clinical findings were compared to medical data and case history. Results. Dental anomalies were registered in high numbers. Enamel hypoplasia was found in 16 patients. In 13 cases this was documented in primary teeth, of which 10 patients had symmetrical and chronological defects. Enamel hypomineralization was found in 23 patients and was equally common in both primary and permanent teeth. The use of computerized inductive analyses revealed that enamel hypoplasia was associated with medical conditions like preterm birth and congenital heart malformation while hypomineralization was associated with more diffuse conditions like frequent infections. Hypodontia was registered in seven patients, while eight had aberrant tooth shape, and nine patients presented delayed tooth eruption. The patients had an average of 4·6 carious or filled teeth and the oral health was assessed as impaired in 15 patients who had severe dental caries (5-18 carious teeth or multiple active incipient caries lesions). Conclusions. In 22q11 deletion syndrome the oral cavity is affected by anomalies in dental enamel, tooth shape, numbers of teeth, and eruption. Dental health problems due to caries are common. This is of special importance as patients with 22q11 deletion syndrome frequently present with congenital heart malformations and immunological problems.

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