Gross Motor Function Measure (GMFM‐66 &amp; GMFM 88) User's Manual2nd Edition Clinics in Developmental Medicine Edited by Dianne JRussell, Peter LRosenbaum, MarilynWright, Lisa MAveryLondon, UK: Mac Keith Press, 2013 £70.00 (Spiral Binding), pp 290 ISBN: 978‐1‐908316‐88‐2

Michaelis, U.

doi:10.1111/dmcn.12547

Cited by 9 publications

(8 citation statements)

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“…The commonly found clinical features as documented in the previous studies on terminal 14q deletion syndrome comprise abnormalities of skull shape, frontal bossing, epicanthal folds, wide nasal bridge, long and broad philtrum, micrognathia, hypotonia, global developmental delay, and mental retardation, which were also observed in the presented case [ 3 , 4 , 12 - 16 ]. GMFM-88 was used for the evaluation of motor skills because its reliability and validity have been established for conditions other than cerebral palsy [ 6 , 7 ]. Physiotherapy management of children with genetic syndromes with tonal abnormalities based on the principles of neurodevelopmental treatment and sensory integration has also been found to be helpful in the literature in improving sensory-motor function [ 17 - 19 ].…”

Section: Discussionmentioning

confidence: 99%

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A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach

Goyal¹,

Goyal²,

Naqvi³

2021

Cureus

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Trisomy 10p is a rare entity to be diagnosed and so is terminal 14q deletion. The total number of trisomy 10p cases reported to date is estimated to be in double digits. The number of terminal 14q deletion cases that have been reported in the literature is even lesser than that of trisomy 10p. Simultaneous occurrence of these genetic aberrations is, therefore, extremely rare. Herein, we document a case of a 14-month-old female diagnosed with trisomy 10p and terminal 14q deletion, who presented with an inability to sit without support and had difficulty in holding her neck. She had no means of independent indoor mobility, which was further limiting her development by exploration. Clinical features included hypotonia, developmental delay, extraneous movements of the head and tongue, intellectual impairment, and facial dysmorphism. She could maintain tripod sitting for less than a minute. Physiotherapy intervention was based on principles of neurodevelopmental treatment and sensory integration. After nine months of physiotherapy intervention, her total gross motor function measure (GMFM) score improved from 11% to 40%. The functional gains were maintained with a home exercise program, after almost one year of discontinuation of institution-based physiotherapy. To the best of our knowledge, this is the first report on the management of a child with the diagnosis of trisomy 10p along with terminal 14q deletion. Further research on the role of early intervention to maximize functional potential in rare genetic conditions is warranted.

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Section: Discussionmentioning

confidence: 99%

“…Her gross motor function measure (GMFM) score was 41% in Dimension A and 13% in Dimension B. Her total GMFM score was 11% [ 6 , 7 ]. She did not attempt reaching and grasping while supported sitting.…”

Section: Case Presentationmentioning

confidence: 99%

A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach

Goyal¹,

Goyal²,

Naqvi³

2021

Cureus

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“…In our case, physiotherapy intervention was planned to facilitate motor development. GMFM-88 was used for evaluation as it is considered reliable and valid for use in conditions other than cerebral palsy [5,6]. At 27 months of age, the child had difficulty in maintaining sitting without support and his GMFM-88 total score was 21%.…”

Section: Discussionmentioning

confidence: 99%

“…Pointing and vocalization were absent. On the gross motor function measure-88 (GMFM-88) used for the evaluation of the motor skills, the child demonstrated a total score of 21% [5,6].…”

Section: Figure 3: Tripod Sittingmentioning

confidence: 99%

Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management

Goyal

Naqvi

Sahu

2020

Cureus

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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.

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“…A evaluates the ability to lie down and roll over, B evaluates the ability to sit, C evaluates the ability to crawl and kneel, D evaluates the ability to stand, and E evaluates the ability to walk, run, and jump. Each functional area can be evaluated individually or in combination; the score for each dimension is expressed as a percentage of the maximum score [21, 22]. Meanwhile, according to the GMFM measurement at a given age, the Gross Motor Function Classification System (GMFCS) can be used to classify the severity of the child’s disease into five levels.…”

Section: Methodsmentioning

confidence: 99%

Hyperbaric Oxygen Therapy Is Beneficial for the Improvement of Clinical Symptoms of Cerebral Palsy: A Systematic Review and Meta-Analysis

Zhang

Xiao

et al. 2021

Complement Med Res

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Introduction: Hyperbaric oxygen (HBO) has been used for the treatment of cerebral palsy for more than 20 years, but its efficacy and safety are still controversial. In this systematic review and meta-analysis, we evaluated the currently promulgated data related to the efficacy of HBO for patients with cerebral palsy. Methods: We searched the PubMed/Medline, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure, and Wanfang databases (from their inception to April 2020) for randomized controlled trials published in English or Chinese. Two researchers used the Cochrane Collaboration tool for data extraction and an independent quality assessment. The extracted data were analyzed by Review Manager 5.3 software. Results: A total of 25 studies consistent with the inclusion criteria were included, with a total of 2,146 people, which included 1,185 participants in the HBO group and 961 in the control group. This meta-analysis showed that when compared with the controls, HBO therapy can improve the gross motor functions evaluated by the Gross Motor Function Measure (n = 696, SMD 0.29, 95% CI [0.07–0.51], Z = 2.62, p = 0.009) and Gross Motor Function Classification System (n = 248, MD –0.40, 95% CI [–0.52 to –0.27], Z = 6.28, p < 0.00001), global developmental level evaluated by Gesell (n = 560, RR 1.30, 95% CI [1.19–1.42], Z = 6.03, p < 0.00001) and developmental quotient (n = 374, MD 8.25, 95% CI [6.48–10.01], Z = 9.15, p < 0.00001) and language expression (n = 270, MD 4.34, 95% CI [2.30–6.38], Z = 4.17, p < 0.00001) and comprehension (n = 270, MD 4.87, 95% CI [2.87–6.88], Z = 4.76, p < 0.00001). HBO therapy only caused mild ear pain. However, the quality of the data for all outcomes evaluated by the Grading of Recommendations Assessment, Development, and Evaluation analysis was very low. Conclusions: HBO therapy may produce a much more efficient clinical experiment result than the control group with cerebral palsy patients, and HBO therapy is well tolerated and relatively safe for the included participants.

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Gross Motor Function Measure (GMFM‐66 & GMFM 88) User's Manual2nd Edition Clinics in Developmental Medicine Edited by Dianne JRussell, Peter LRosenbaum, MarilynWright, Lisa MAveryLondon, UK: Mac Keith Press, 2013 £70.00 (Spiral Binding), pp 290 ISBN: 978‐1‐908316‐88‐2

Cited by 9 publications

References 0 publications

A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach

A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach

Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management

Hyperbaric Oxygen Therapy Is Beneficial for the Improvement of Clinical Symptoms of Cerebral Palsy: A Systematic Review and Meta-Analysis

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