TY - JOUR
T1 - Rubinstein-taybi syndrome
T2 - A rare case report of a female child emphasizing physiotherapy on gross motor function
AU - Kovela, Rakesh Krishna
AU - Qureshi, Mohammad Irshad
AU - Manakandathil, Ansar
AU - Sinha, Mukesh Kumar
AU - Dinesh, Neethu
AU - Harjpal, Pallavi
N1 - Publisher Copyright:
© Rakesh Krishna Kovela et al.
PY - 2021/9/1
Y1 - 2021/9/1
N2 - Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS and there is no retrievable literature on physiotherapy and its role in improving motor function in RSTS. The present case report is of a baby girl of 17 months suspected case of RSTS, presented with all the features of RSTS. Delay in the acquisition of skills and development were the chief complaints. We designed a 12-week treatment regimen that concentrated mainly on transitions using principles of neurodevelopmental therapy. Gross motor function measure (GMFM 88) was taken pre-and post-treatment which showed tremendous improvement. This is the first study on the role of physiotherapy in RSTS.
AB - Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS and there is no retrievable literature on physiotherapy and its role in improving motor function in RSTS. The present case report is of a baby girl of 17 months suspected case of RSTS, presented with all the features of RSTS. Delay in the acquisition of skills and development were the chief complaints. We designed a 12-week treatment regimen that concentrated mainly on transitions using principles of neurodevelopmental therapy. Gross motor function measure (GMFM 88) was taken pre-and post-treatment which showed tremendous improvement. This is the first study on the role of physiotherapy in RSTS.
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U2 - 10.11604/pamj.2021.40.85.31240
DO - 10.11604/pamj.2021.40.85.31240
M3 - Article
AN - SCOPUS:85118747761
SN - 1937-8688
VL - 40
JO - Pan African Medical Journal
JF - Pan African Medical Journal
M1 - 85
ER -