关键词: Autism spectrum disorder Case report Congenital insensitivity to pain with anhidrosis Developmental delays Treatment and education of autistic and communication handicapped children and adults Autism spectrum disorder Case report Congenital insensitivity to pain with anhidrosis Developmental delays Treatment and education of autistic and communication handicapped children and adults

Mesh : Autism Spectrum Disorder / complications diagnosis Channelopathies Child Child, Preschool Hereditary Sensory and Autonomic Neuropathies / complications diagnosis Humans Hypohidrosis / complications diagnosis genetics Male Pain Insensitivity, Congenital / complications diagnosis

来  源:   DOI:10.1186/s12887-022-03196-3

Abstract:
In this case report, we described the past history, clinical manifestations, genetic characteristics and cognitive evaluation of a boy with congenital insensitivity to pain with anhidrosis (CIPA) who developed autism spectrum disorder (ASD).
The boy had an early onset of CIPA at the age of 48 months, and was later diagnosed with ASD at 5 years old. Developmental delays in communication, social skills and the presence of maladaptive behaviors were observed in the patient. Professional treatments significantly improved the developmental delays.
This case demonstrated that ASD may develop in children with CIPA, and pediatricians should be aware that if they suspect or identify a child with CIPA that they should also be screened for ASD using similar examination and diagnostic tools as shown in the present report. Moreover, therapeutic interventions for ASD was helpful for the remission of both diseases.
摘要:
在这个案例报告中,我们描述了过去的历史,临床表现,对患有自闭症谱系障碍(ASD)的先天性无汗症(CIPA)男孩的遗传特征和认知评估。
这个男孩在48个月大的时候出现了PA的早期发作,后来在5岁时被诊断为ASD。通信的发展延迟,观察到患者的社交能力和适应不良行为的存在。专业治疗显着改善了发育迟缓。
这个案例表明,ASD可能在患有CIPA的儿童中发展,儿科医生应该意识到,如果他们怀疑或确定患有CIPA的儿童,他们也应该使用本报告中显示的类似检查和诊断工具进行ASD筛查.此外,ASD的治疗干预措施有助于两种疾病的缓解.
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