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Children with Special Needs
Published in Raymond W Clarke, Diseases of the Ear, Nose & Throat in Children, 2023
The genetic anomaly in Down syndrome is the presence of an extra chromosome 21, hence the term ‘trisomy 21’ (Figure 3.1). Children with Down syndrome are prone to a variety of ENT pathologies. They have a high incidence of OSA due to muscle hypotonia, relative macroglossia due to a mid-facial hypoplasia, and large obstructing tonsils and adenoids. Congenital heart disease is more prevalent than in age-matched peers, and OSA can precipitate pulmonary hyper-tension, a serious and potentially devastating feature of trisomy 21. Airway problems are common and include tracheo-oesophageal fistula (TOF), tracheomalacia and subglottic stenosis (SGS). Other ENT issues include deafness, both sensorineural and conductive. A small external ear canal, a high incidence of otitis media with effusion (OME) and anatomical abnormalities of the ossicles, cochlea and facial nerve are all well documented. Thyroid pathology is also more common.
ChIP-seq analysis
Published in Altuna Akalin, Computational Genomics with R, 2020
Here we will familiarize ourselves with the datasets that will be used in the chapter. Experimental data was downloaded from the public ENCODE (ENCODE Project Consortium, 2012) database of ChIP-seq experiments. The experiments were performed on a lymphoblastoid cell line, GM12878, and mapped to the GRCh38 (hg38) version of the human genome, using the standard ENCODE ChIP-seq pipeline. In this chapter, due to compute time considerations, we have taken a subset of the data which corresponds to the human chromosome 21 (chr21).
The Genetics of Alzheimer Disease:
Published in Robert E. Becker, Ezio Giacobini, Alzheimer Disease, 2020
Chromosome 21 appeared to be a good place to search for a responsible genetic defect for AD (Heston, 1984; Selkoe, 1989). Chromosome 21 was implicated in several ways. First of all, virtually all Down’s syndrome (trisomy 21) patients surviving into their forties, develop AD-like neuropathological changes, although not necessarily a clinical dementia. Down’s syndrome occurs only with duplication of chromosomal material from an “obligate” portion of the proximal section of the long arm of chromosome 21.
Differences in foot dimensions between children and adolescents with and without Down syndrome
Published in Disability and Rehabilitation, 2022
Nirmeen M. Hassan, Andrew K. Buldt, Nora Shields, Karl B. Landorf, Hylton B. Menz, Shannon E. Munteanu
Down syndrome is a common chromosomal abnormality that results in the trisomy of chromosome 21 [1]. It is associated with a number of orthopaedic anomalies and musculoskeletal disorders [2]. Approximately 20 to 27% of people with Down syndrome experience musculoskeletal disorders, and foot deformities make up 30% of all reported orthopaedic complaints [3]. Structural anomalies such as hallux valgus deformity and flat feet are the two most commonly reported in the literature [4–6]. However, other structural anomalies that may cause foot problems include digital deformities, bony deformities of the forefoot [4], hallucal cleft, isolated calcaneal valgus [4] and a plantarflexed first ray. Several of these structural anomalies are thought to occur secondary to higher body mass index [7], muscular hypotonia [8], ankle instability [9] as well as ligamentous laxity [10] – all of which are associated with Down syndrome. These structural anomalies may have a negative impact on gait, engaging in daily activities [11] and footwear-fitting.
Effects of Traditional Indian Dance on Motor Skills and Balance in Children with Down syndrome
Published in Journal of Motor Behavior, 2022
Manasa Kolibylu Raghupathy, Mohan Divya, Suruliraj Karthikbabu
Down syndrome (DS) is a congenital, genetic disorder caused by the presence of an extra partial or complete copy of chromosome 21 (Pinter et al., 2001). The estimated incidence of DS in India is 1:1250 live births (Jayalakshamma et al., 2010). The neuromotor, musculoskeletal and cardiopulmonary systems are structurally and functionally affected in children with DS (Pinter et al., 2001). Neuromotor impairments of hypotonia, joint instability, muscle weakness, movement incoordination, increased reaction time, and poor postural control could delay their motor development (Jobling, 1999; Malak et al., 2015; Oliveira et al., 2016). Along with neuromotor impairments, the sensory integration dysfunction further affects the attention and motor skills of children with DS (Ashori, Zarghami, Ghaforian, & Jalil-Abkenar, 2018). Their motor skills appear to be jerky, lack fluency and smoothness (Virji-Babul & Brown, 2004) due to deficits in manual dexterity, laterality, and eye-hand coordination (Schott & Holfelder, 2015; Spano et al., 1999). Mild cognitive dysfunction such as attention deficits and learning disability among children with DS limit their ability to interact within the environment, explore the space and manipulate the objects (Lott & Dierssen, 2010). Motor skills and balance performance are the major factors that determine their participation in daily tasks, recreational, and sports activities, therefore impacting their quality of life (Capio et al., 2018; El-Hady et al., 2018; Shumway-Cook & Woollacott, 1985).
Do parent-mediated interventions improve communication and language development in children with Down syndrome? – A Cochrane Review summary with commentary
Published in Developmental Neurorehabilitation, 2020
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21; the incidence of Down syndrome has been estimated to range from 1 per 1000 to 1100 live births worldwide.2 It is the most common genetic cause of intellectual disability, and is associated with abnormalities in various organ systems and developmental difficulties, such as congenital heart disease and hearing and vision disorders. Language is especially impaired and contributes to difficulties in achieving independent living.3 Children with Down syndrome generally present a language profile characterized by poorer expressive than receptive skills, particularly in terms of vocabulary, and difficulties with both receptive and expressive grammar.4 Interactions with caregivers have been shown to have a beneficial impact on a child’s language development.5 Thus, for young children with Down syndrome, it is thought that training their parents on the importance of the quality and quantity of their language input, interaction, and responsivity could promote language development in these children. Parent-mediated interventions are designed to foster and increase adult–child interactions and facilitate adequate language modeling and prompting from adult in an ecologically valid and family-centered way.6 A Cochrane Review synthetized evidence regarding the effects of parent-mediated interventions on communication and language development in children with Down syndrome.1