Neurodevelopment physiotherapy in cornelia de lange syndrome Cornelia de Lange Sendromunda Nörogelişimsel Fizyoterapi
Turkiye Klinikleri Pediatri, cilt.27, sa.2, ss.83-88, 2018 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 27 Sayı: 2
- Basım Tarihi: 2018
- Doi Numarası: 10.5336/pediatr.2018-59617
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.83-88
- Anahtar Kelimeler: De lange syndrome, Exercise, Physical therapy modalities, Rehabilitation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Cornelia de Lange syndrome (CdLS) is a cohesinopathy disorder caused by heterozygous or X-linked mutations. In cases with CdL syndrome, typical facial appearance, developmental retardation of multiple organ and extremity anomalies is seen. In this case report, we present a case of a 33 years old mother with developmental and nutritional problems in a 23 months old girl who was pregnant and had postpartum. The case was born in the 38th week of pregnancy with cesarean section as 2.700 g, 48 cm as the second child of the healthy couple without a kinship. The case was not identified in the history of the case. The physical examination showed typical facial appearance, while the upper limbs were partially better with dysfunction. Hypotonia is defined in the muscles. Visual system problems such as astigmatism and strabismus in the case without cardiovascular system and hearing problems, renal disorders such as reflux, shrinkage and rotation in the right kidney were detected. The case was evaluated by GMFM, GMFCS and MINI-MACS tests by the same physiotherapist before and after treatment. Neurodevelopmental physiotherapy was applied to the case for 45 minutes twice a week for 10 weeks. Positive developments were recorded in all parameters after treatment. This study showed that the neurodevelopmental program applied to individuals with CdLS supports normal motor development.