22q11 deletion syndrome - the meaning of a diagnosis. A qualitative study on parental perspectives.

BACKGROUND: The 22q11 deletion syndrome (22q11DS) is one of the most common multiple anomaly syndromes, with an incidence of approximately one per 4000 newborns. Although a patient may have several not too severe symptoms, the cumulative effect may be substantial disability. The aim of this study was to explore and describe parents' experiences of the diagnostic process and of being parents of a child with 22q11DS. METHODS: Open, tape-recorded interviews were carried out with 12 parents. The interviews were analysed in accordance with classical grounded theory. RESULTS: The analysis show that parents describe the disclosure of their child's medical diagnosis as two-sided, ambivalence between relief and sorrow, and the differences between these two aspects were related to the age of the child at time of diagnosis as well as to the problems and symptoms that had led to the diagnosis. Different strategies for handling this ambivalence are presented in the categories. CONCLUSIONS: Our conclusions are that information must be individually tailored, and there is no standard format for how to describe the syndrome to the parents. After disclosure, scheduled appointments for follow-up on diagnosis-related information is essential.

Facial features in children with the 22q11 deletion syndrome.

AIM: To find a pattern of the most typical facial features in children with the 22q11 deletion syndrome, which could serve as an aid in identifying patients with the syndrome. METHODS: In 80 children and adolescents with the 22q11 deletion syndrome, three investigators evaluated the facial features separately using frontal and profile photographs. A patient was considered to have a given feature if at least two of the evaluators agreed. RESULTS: The most common facial features found in at least 50% of the patients were malar flatness, fullness of eyelids (hooded eyelids), broad nasal bridge/tubular nose, broad/round nasal tip, round ears, thick/overfolded helix and slightly low-set ears. These were also the most common features when all agreed, although a considerable variation in the assessment by the three evaluators was observed. CONCLUSIONS: The 22q11 deletion syndrome is a differential diagnosis in children with a variety of symptoms and signs including congenital malformations, developmental delay and speech abnormalities. Almost all children with the syndrome show a characteristic pattern of minor facial variants, which can be difficult to recognise, unless specifically looked for. A systematic evaluation of facial features might help in identifying children with the syndrome.

Disabilities and cognition in children and adolescents with 22q11 deletion syndrome.

The purpose of this study was to investigate cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome. Thirty-three children (15 females, 18 males; age range 3 to 19y, median 7y 6mo) with 22q11 deletion were investigated for growth, development, neurology, cognition, motor function, and participation (measured as handicap**). Half of the children had never crawled, although they had shuffled, and commencement of walking was delayed (mean 18mo, SD 6mo). Hypotonia was found in 25 and poor balance in 24 of the 33 children; 17 out of 27 had definite motor problems, including two with spastic hemiplegia. Intelligence quotient (IQ) range was 50 to 100. Eleven patients had an IQ below 70, and 15 between 70 and 84. Verbal IQ was higher than Performance IQ. Level of handicap within the study group was considered moderate, and all but one child had extra support at school. We conclude that children with 22q11 deletion syndrome have multiple neurological, motor, and cognitive problems. Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation.

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.

BACKGROUND: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wide phenotypic spectrum and an estimated incidence of one in 4000 births. AIMS: To assess the incidence and prevalence of the 22q11 deletion syndrome in the Western Götaland Region of western Sweden METHODS: Children below 16 years of age with 22q11DS in a well defined catchment area and population of the Western Götaland Region were recruited. Diagnosis of 22q11DS was confirmed using a FISH (fluorescence in situ hybridisation) test. Proven 22q11 deletion was the demonstration of one signal in 11 metaphase spreads with fair quality. RESULTS: During the study period in the Western Götaland Region the mean annual incidence of 22q11DS was 14.1 per 100 000 live births. During the first five years the incidence was 18.1 per 100 000 live births for the whole region and 23.4 per 100 000 live births in Gothenburg, where a multidisciplinary specialist team for 22q11 DS is based. The prevalence was 13.2 per 100 000 children below 16 years of age in the whole region and 23.3 per 100 000 in Gothenburg. CONCLUSION: The number of individuals diagnosed depends on the experience and awareness of the syndrome among specialists who encounter these children and also the severity of the phenotype. The higher frequency of 22q11DS found in Gothenburg is an example of increased awareness. The true incidence and prevalence of this syndrome will only be found through population-based screening, but this would be too expensive and ethically questionable. Screening of specific risk populations would be more justified.

Oral manifestations in 22q11 deletion syndrome.

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.

Neuropsychiatric disorders in the 22q11 deletion syndrome.

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.

[CATCH22 or 22q11 deletion syndrome. An underdiagnosed and misunderstood disease category with a variable clinical picture]. / CATCH 22-syndrom/22q11-deletionssyndrom. Underdiagnostiserad och missförstådd sjukdomsgrupp med skiftande klinisk bild.

Patients with CATCH 22 or 22q11 deletion syndrome constitute a fast growing category in Sweden as it is still underdiagnosed. In a series of 54 patients the predominant features were found to be speech and language difficulties, cardiac malformations, susceptibility to infection, learning and behavioural problems, hypoparathyroidism, minor motor deficits, and characteristic facies. The severity of these problems varied individually, but as the patients had numerous symptoms and disabilities the overall degree of handicap was considerable. Thus, regular evaluation of the patient's condition and overall need of care is important.

Wheezing bronchitis reinvestigated at the age of 10 years.

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.