PMID- 32923223
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 12
IP  - 8
DP  - 2020 Aug 9
TI  - Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into 
      Physiotherapy Management.
PG  - e9622
LID - 10.7759/cureus.9622 [doi]
LID - e9622
AB  - Xia-Gibbs syndrome (XGS) is a recently discovered genetic disorder. It is 
      characterized by global developmental delay, intellectual impairment, hypotonia, 
      and sleep abnormalities. While the current literature emphasizes on the genotype 
      and phenotype of this rare condition, it does not provide any description of the 
      physiotherapy management of patients with XGS. We report a case of a 27-month-old 
      Indian male diagnosed with XGS, who presented with difficulty in sitting without 
      support. He had dysmorphic facies, hypotonia, hyperextensible joints, mild 
      kyphoscoliosis, and global developmental delay. His parents and an elder female 
      sibling were clinically asymptomatic. The physiotherapy intervention was based on 
      the principles of neurodevelopmental treatment (NDT) and sensory integration 
      (SI). The management included facilitation of transitions, weight-bearing 
      exercises, wheelbarrow walking, joint compressions, rib cage mobilization, 
      multidirectional reaching, and pushing-pulling activities along with the use of 
      equipment like Swiss ball, balance board, stability disc, trampoline, swing 
      system, walker (rollator), and walking harness. Also, stabilizing pressure input 
      orthosis (SPIO) for the trunk and ankle-foot orthosis (AFO) followed by 
      supramalleolar orthosis (SMO) were used for support. Thereafter, the child was 
      able to stand and walk without support at the age of 36 months, and walk on 
      uneven terrain at the age of 42 months. In addition, he could negotiate stairs 
      using handrails with mild assistance. His gross motor function measure-88 
      (GMFM-88) total score improved from 21% at the presentation to 66.6% following 
      the treatment. It was observed that the NDT and SI approaches along with the use 
      of appropriate orthoses accelerated the achievement of motor milestones in this 
      case. To the best of our knowledge, this is the first case report of a child with 
      XGS that emphasizes on the course of physiotherapy management for the associated 
      motor delay.
CI  - Copyright (c) 2020, Goyal et al.
FAU - Goyal, Chanan
AU  - Goyal C
AD  - Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND.
AD  - Neuroscience, Government Physiotherapy College, Raipur, IND.
FAU - Naqvi, Waqar
AU  - Naqvi W
AD  - Community Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND.
FAU - Sahu, Arti
AU  - Sahu A
AD  - Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND.
LA  - eng
PT  - Case Reports
DEP - 20200809
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC7478925
OTO - NOTNLM
OT  - developmental delay
OT  - motor delay
OT  - neurodevelopmental treatment
OT  - paediatric physiotherapist
OT  - pediatric rare diseases
OT  - physiotherapy
OT  - sensory integration
OT  - xgs
OT  - xia-gibbs syndrome
COIS- The authors have declared that no competing interests exist.
EDAT- 2020/09/15 06:00
MHDA- 2020/09/15 06:01
PMCR- 2020/08/09
CRDT- 2020/09/14 05:53
PHST- 2020/09/14 05:53 [entrez]
PHST- 2020/09/15 06:00 [pubmed]
PHST- 2020/09/15 06:01 [medline]
PHST- 2020/08/09 00:00 [pmc-release]
AID - 10.7759/cureus.9622 [doi]
PST - epublish
SO  - Cureus. 2020 Aug 9;12(8):e9622. doi: 10.7759/cureus.9622.