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

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          Abstract

          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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          De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

          Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 "known" disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome.
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            The phenotypic spectrum of Xia-Gibbs syndrome

            Xia-Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of approximately 60 probands. Additional de novo truncating mutations were observed among 25 individuals, extending both the known number of mutation sites and the range of positions within the coding region that were sensitive to alteration. Detailed phenotypic examination of 20 of these patients via clinical records review and data collection from additional surveys showed a wider age range than previously described. Data from developmental milestones showed evidence for delayed speech and that males were more severely affected. Neuroimaging from six available patients showed an associated thinning of the corpus callosum and posterior fossa cysts. An increased risk of both scoliosis and seizures relative to the population burden was also observed. Data from a modified autism screening tool revealed that XGS shares significant overlap with autism spectrum disorders. These details of the phenotypic heterogeneity of XGS implicate specific genotype/phenotype correlations and suggest potential clinical management guidelines.
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              The Gross Motor Function Measure (GMFM)

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                Author and article information

                Journal
                Cureus
                Cureus
                2168-8184
                Cureus
                Cureus (Palo Alto (CA) )
                2168-8184
                9 August 2020
                August 2020
                : 12
                : 8
                : e9622
                Affiliations
                [1 ] Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND
                [2 ] Neuroscience, Government Physiotherapy College, Raipur, IND
                [3 ] Community Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND
                Author notes
                Article
                10.7759/cureus.9622
                7478925
                f3a3517b-f171-4967-8a62-7a37a8867185
                Copyright © 2020, Goyal et al.

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                : 20 July 2020
                : 9 August 2020
                Categories
                Neurology
                Pediatrics
                Physical Medicine & Rehabilitation

                xia-gibbs syndrome,xgs,developmental delay,neurodevelopmental treatment,sensory integration,physiotherapy,motor delay,pediatric rare diseases,paediatric physiotherapist

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