Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control.
Phys Occup Ther Pediatr
; 29(3): 239-57, 2009.
Article
en En
| MEDLINE
| ID: mdl-19842854
ABSTRACT
Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors. Physical and occupational therapists provide services for children who have the syndrome, whose genetic disorder is frequently not identified or diagnosed before 1 year of age. A comprehensive physical and occupational therapy evaluation was completed in nonidentical twins with one having SMS, using the Sensory Profile; Brief Assessment of Motor Function (BAMF); Peabody Developmental Motor Scales, Second Edition (PDMS-2); and Pediatric Evaluation of Disability Inventory (PEDI). This provides a framework for conducting assessments to enhance early detection and interdisciplinary management with this specialized population.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Gemelos Dicigóticos
/
Anomalías Múltiples
/
Terapia Ocupacional
/
Trastornos de la Destreza Motora
/
Manipulaciones Musculoesqueléticas
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Phys Occup Ther Pediatr
Año:
2009
Tipo del documento:
Article
País de afiliación:
Estados Unidos