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Teaching children who are deafblind in physical education, physical activity and recreation
Published in John Ravenscroft, The Routledge Handbook of Visual Impairment, 2019
Lauren J. Lieberman, Justin A. Haegele
The leading cause of child-onset deafblindness is CHARGE syndrome. The diagnosis of CHARGE syndrome is clinically based on the medical features of the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with the syndrome. The clinical diagnosis is made using a combination of major and minor features. Major features are characteristics that are common in CHARGE syndrome but relatively rare in other conditions and are, for the most part, diagnosable in the newborn period. Minor features are characteristics that are also common in CHARGE but not quite as helpful in distinguishing CHARGE from other syndromes. Major features in children with CHARGE include vision problems, swallowing and nasal issues, hearing difficulties and growth delays. CHARGE syndrome is a leading cause of deafblindness at birth. Because children with CHARGE experience so many medical complications, it is imperative that they be taught to their functional ability. As they get stronger and experience fewer visits to the hospital, the instructor can increase the length, duration and intensity of activities offered.
Case 93
Published in Simon Lloyd, Manohar Bance, Jayesh Doshi, ENT Medicine and Surgery, 2018
Simon Lloyd, Manohar Bance, Jayesh Doshi
The condition is associated with CHARGE syndrome. This consists of: Coloboma of the eyeHeart defectsAtresia of the nasal choanaeRetardation of growth/developmentGenital/urological abnormalitiesEar abnormalities/deafness50% of CHARGE patients have some sort of choanal atresia75% of bilateral choanal atresia patients have other CHARGE defects36% of unilateral choanal atresia patients have other CHARGE defects
The Child with a Syndrome
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Thushitha Kunanandam, Haytham Kubba
CHARGE syndrome is an autosomal dominant genetic disorder typically caused by mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) gene.1,17,18 The acronym ‘CHARGE’ denotes the non-random association of coloboma, heart anomalies, choanal atresia, retardation of growth and development, and genital and ear anomalies, which are frequently present in various combinations and to varying degrees in individuals with CHARGE syndrome.19
The development of an educational checklist for individuals with CHARGE syndrome
Published in International Journal of Developmental Disabilities, 2021
Lillian J. Slavin, Timothy S. Hartshorne
CHARGE syndrome is a complex genetic syndrome, which is estimated to occur in approximately 1:10,000 to 1:15,000 births (Trider et al.2017). CHARGE syndrome is multi-faceted, typically affecting every sensory system (i.e. visual, auditory, tactile, gustatory, olfactory, vestibular, and proprioceptive; Davenport and Hefner 2011) to a varying degree. A CHARGE diagnosis is made using a combination of clinical criteria—established by Blake et al. (1998) and Verloes (2005)—and genetic testing. Clinical criteria include major criteria, which occur frequently in CHARGE but infrequently in other populations, and minor criteria, which are less common than major criteria, but are still characteristic of the syndrome (See Table 1 for a comparison of the criteria). For additional information regarding CHARGE diagnostic criteria, see Hefner and Fassi (2017).
Systematic review of cochlear implantation in CHARGE syndrome
Published in Cochlear Implants International, 2019
Nikul Amin, Priya Sethukumar, Irumee Pai, Kaukab Rajput, Robert Nash
CHARGE syndrome is a congenital collection of anomalies of various organs (C: coloboma of the eye, H: heart defects, A: atresia of the choana, R: retardation of growth and development, G: genital hypoplasia, E: ear malformations). The incidence has been approximated at 0.1–0.2 per 10000 per live birth but this possibly an underestimation (Issekutz et al., 2005). This term was first coined in 1981 by Pagon et al. (1981) after the association of multiple anomalies of seemingly unknown aetiology were originally described by Hall (1979), and Hittner et al. (1979). Prior to identification of the CHD7 genetic mutation in the majority of patients with CHARGE syndrome, the condition was diagnosed based on the association of specified anomalies. The criteria for a diagnosis have developed over time and are based on major characteristics (ocular coloboma, choanal atresia/stenosis, cranial nerve anomalies, and ear anomalies) and several minor characteristics (cardiovascular malformation, genital hypoplasia, cleft lip/palate, tracheoesophageal fistula, characteristic facies, growth deficiency, and developmental delay) with renal and musculoskeletal anomalies occasionally described (Blake and Prasad 2006; Blake et al., 1998). The most widely used diagnostic criteria state that patients are highly likely to have CHARGE syndrome if they have four major or three major and three minor characteristics (Blake and Prasad 2006).
Research on congenital severe-to-profound sensorineural hearing loss associated with central lucency of the bony island of the lateral semicircular canal
Published in Acta Oto-Laryngologica, 2023
Qin Wang, Panpan Bian, Shengjin Bai, Chi Chen, Yanli Wang, Yufen Guo, Baicheng Xu
Current research suggests that with the exception of the internal auditory canal (IAC), the human inner ears do not change after their birth. Lateral semicircular canal (LSCC) malformation is one of the most common inner ear malformations. Temporal bone computed tomography (TBCT) is usually the first-line examination because LSCC malformations are easily observed on axial TBCT images. LSCC malformation can be traced to an embryologic origin [1]. During the sixth week of development, the budding semicircular canal (SCC) evaginates from the vestibular anlage. Thereafter, the central portion of the pocket-shaped protrusion adheres, leaving a peripheral semicircular tube. Failure in this central adhesion results in SCC dysplasia. In addition, LSCC malformations are more common than superior or posterior malformations since they appear earlier during embryogenesis. LSCC malformation, in which the LSCC is narrowed, dilated, or shortened, is the most common form of LSCC. Imaging diagnosis of LSCC malformation can be made when the area of the central bony part of the LSCC is less than 7 mm2 in TBCT or internal auditory canal magnetic resonance imaging (IAC MRI) [2]. Venkatasamy et al. [3] classified their LSCC malformations as characterized by either an increased width of its medial portion (≥ 1.8 mm) and/or a lowered central bony island surface (<7 mm2). Children with CHARGE syndrome can present with a wide array of symptoms and levels of developmental delay. The most consistent clinical manifestation associated with CHD7 mutations is semicircular canal hypoplasia [4]. Yoon et al. [5] investigated 13 patients with CHARGE syndrome, and the results showed that semicircular canal hypoplasia accounted for 100%. Amin et al. [6] systematically reviewed CHARGE syndrome patients with cochlear implantation (CI), and 94.1% had semicircular canal hypoplasia. In our clinical service, a child with congenital profound SNHL was diagnosed with CHARGE syndrome, which aroused our interest; the surface of the bony islands on both sides was more than 7 mm2, and the width of the medial portion of the LSCC was larger than 1.8 mm. However, there was a central lucency of the bony island of LSCC. If the central lucency of the bony island was removed, the real surface of the bony islands was less than 7 mm2. In the literature, most authors have reported that central lucency of the bony island of LSCC is often observed in patients with congenital SNHL [7,8]. The same results were shown in our study, but the relationship and mechanism of association between the central lucency of the bony island of LSCC and congenital severe-to-profound SNHL has not been elucidated. Labyrinthine malformations are commonly thought to be associated with congenital severe-to-profound SNHL. However, some authors, such as Venkatasamy et al. [3] and Johnson et al. [9] suggested that LSCC malformation may be associated with both SNHL and conductive hearing loss (CHL). Other authors, such as Ozeki et al. even reported cases of LSCC malformation with normal hearing [10].