İşitme kaybı olan down sendromlu çocuk hastada eşlik eden otistik bulgular

Sevginar Önder, Serpil Alluşoğlu, Ayşe İriz, Aydın Acar, A. Dinç
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Abstract

Accompanying autistic findings in a child with down syndrome with hearing loss Down Syndrome (DS) is the most common chromosomal abnormality in the general population. Hearing loss is common in children with DS. It has been denoted that the rate of autism spectrum disorder (ASD) finding is quite frequent in individuals with DS. Early detection of autism characteristics is important for appropriate intervention. The presented case is a child with DS who was diagnosed with mild/moderate SNHL at the age of 7 months and recommended a hearing aid, and despite receiving intensive special education and rehabilitation program and appropriate family support, his development was very limited. Since his development was very limited, he was diagnosed with ASD when he has been referred to child psychiatry again. This case report shows the importance of directing the child to other disciplines to elucidate the factor causing limitation in cases where speech and language development is limited despite early diagnosis and intervention. Besides, it reveals the importance of routinely screening these children in terms of ASD, due to the high rate of coexistence of ASD in children with DS. Keywords: Down syndrome, hearing loss, autism spectrum disorder, speech and language development, early diagnosis
伴有听力损失的唐氏综合症儿童的孤独症表现唐氏综合症(DS)是普通人群中最常见的染色体异常。听力丧失在退行性痴呆儿童中很常见。研究表明,自闭症谱系障碍(ASD)的发现率在DS患者中相当普遍。早期发现自闭症特征对于适当的干预很重要。本病例是一名儿童退行性残疾,在7个月大时被诊断为轻度/中度SNHL,并建议使用助听器,尽管接受了强化的特殊教育和康复计划以及适当的家庭支持,但他的发育非常有限。由于他的发育非常有限,当他再次被转介到儿童精神科时,他被诊断为自闭症谱系障碍。本病例报告显示了指导儿童到其他学科的重要性,以阐明导致言语和语言发展受到限制的因素,尽管早期诊断和干预。此外,它揭示了常规筛查这些儿童ASD的重要性,因为在DS患儿中ASD的共存率很高。关键词:唐氏综合征,听力损失,自闭症谱系障碍,言语语言发育,早期诊断
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