Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework.
OBJECTIVE
Angelman syndrome (AS) accounts for upto 6% of all cases with severe mental retardation and epilepsy. Clinical findings include developmental delay, severely impaired expressive language, ataxic gait, tremulousness of limbs and a typical behavioral profile including a happy demeanour, hyperactive behavior and low attention span. Seizures, abnormal electroencephalogram, microcephaly and scoliosis are observed in >80% of patients. Cognitive, language and orthopedic problems must be addressed with vigorous rehabilitation programs. Classification of functioning disability and health, children and youth adaptation (ICF-CY) can provide the most adequate framework to describe the condition of the persons towards whom rehabilitative efforts are concentrated. The aim of the study is to test whether the ICF-CY framework is effectively able to capture the various dimensions of health in AS.


METHODS
We applied the ICF-CY, to the detail of second level codes, to a cohort of 11 patients with AS of various ages. The coding was obtained by the multi-professional team following these children for the rehabilitation program.


RESULTS
The functional profile obtained applying the ICF-CY is complete and comparable with the characteristics of the syndrome described in literature. The possibility of highlighting not only the problems but also the points of strength appears as very helpful. The second level codes may be too broad to provide insight in the clinical and rehabilitative peculiarities, and the use of the full power of the classification may be more advisable for clinical use.


CONCLUSIONS
This prelimiary study shows that ICF-CY is a valid tool to frame the clinical characteristics of a complex syndrome as AS, and may give a strong foundation for the rehabilitation programming.
Bonanni
Paolo
P
E. Medea Scientific Institute, Conegliano-Pieve di Soligo Research Centre, Conegliano, Italy. paolo.bonanni@cn.lnf.it
Gobbo
Annamaria
A
Nappi
Sara
S
Moret
Ornella
O
Nogarol
Anita
A
Santin
Michela
M
Randazzo
Giovanna
G
Martinuzzi
Andrea
A
D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000534:rehabilitation; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018875:Vocabulary, Controlled; D055815:Young Adult