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.

[1]  W. Briegel,et al.  22q11.2 deletion syndrome: behaviour problems of children and adolescents and parental stress. , 2008, Child: care, health and development.

[2]  L. Hercher,et al.  Living with a child at risk for psychotic illness: The experience of parents coping with 22q11 deletion syndrome: An exploratory study , 2008, American journal of medical genetics. Part A.

[3]  U. Hallberg,et al.  Living at the edge of one's capability: Experiences of parents of teenage daughters diagnosed with ADHD , 2008 .

[4]  R. Shprintzen.  Velo-cardio-facial syndrome: 30 Years of study. , 2008, Developmental disabilities research reviews.

[5]  L. Skov,et al.  Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled. , 2007, Child: care, health and development.

[6]  J. Gerris,et al.  Parents' psychological adjustment in families of children with Spina Bifida: a meta-analysis , 2005, BMC pediatrics.

[7]  L. Abbeduto,et al.  Family experiences associated with a child's diagnosis of fragile X or Down syndrome: evidence for disruption and resilience. , 2005, Mental retardation.

[8]  C. Persson,et al.  Presenting phenotype in 100 children with the 22q11 deletion syndrome , 2005, European Journal of Pediatrics.

[9]  A. Fasth,et al.  Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden , 2004, Archives of Disease in Childhood.

[10]  D. Srivastava,et al.  Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. , 2003, Trends in molecular medicine.

[11]  Lorenzo D Botto,et al.  A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. , 2003, Pediatrics.

[12]  G. Klingberg,et al.  Living with a child with a severe orofacial handicap: experiences from the perspectives of parents. , 2003, European journal of oral sciences.

[13]  R. Davies,et al.  Parents' stories of sensitive and insensitive care by paediatricians in the time leading up to and including diagnostic disclosure of a life-limiting condition in their child. , 2003, Child: care, health and development.

[14]  F. Floyd,et al.  Life course impacts of parenting a child with a disability. , 2001, American journal of mental retardation : AJMR.

[15]  H. Saal,et al.  Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome. , 2000, The Journal of pediatrics.

[16]  K. Devriendt,et al.  Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. , 2000, American journal of medical genetics.

[17]  S. Hill,et al.  Disclosing special needs to parents. Have we got it right yet? , 1999, Child: care, health and development.

[18]  K. Devriendt,et al.  The annual incidence of DiGeorge/velocardiofacial syndrome. , 1998, Journal of medical genetics.

[19]  A. Green,et al.  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. , 1997, Journal of medical genetics.

[20]  J. Green,et al.  Diagnosis of Duchenne muscular dystrophy: parents' experiences and satisfaction. , 1996, Child: care, health and development.

[21]  B. Emanuel,et al.  A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. , 1992, American journal of human genetics.

[22]  E. Schopler,et al.  Mothers and Fathers of Young Developmentally Disabled and Nondisabled Boys: Adaptation and Spousal Support. , 1988 .

[23]  L. Quine,et al.  First diagnosis of severe mental handicap: characteristics of unsatisfactory encounters between doctors and parents. , 1986, Social science & medicine.