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.

Over the past decade, there has been a rise in the prevalence of developmental disabilities. Early diagnosis and access to healthcare services are essential for children with developmental delays to optimize development. For families living in poverty, accessing specialized assessment/intervention services for children with developmental disabilities is often a formidable task. In this study, we provide preliminary evidence for the implementation of a developmental risk assessment screening questionnaire using a telehealth format to address the gap in access to services in a community clinic serving a low-income urban neighborhood. Ninety-seven caregivers of children between 12 months and 7 years of age participated in this study. Caregivers completed the risk assessment screening questionnaire using an iPad that was available to them at the clinic. Results showed that while only 11% of caregivers indicated they were initially concerned about their child\'s overall development, completion of the focused risk assessment resulted in a completely different picture. Fifty percent of caregivers reported that their child had three or more concerns in at least one area of development that would warrant further evaluation. Alerting both families and professionals to these concerns as early as possible may position the family and child to receive the much-needed services that have the potential to mitigate more serious developmental problems. This article discusses the promising role that Telehealth can play in providing screening services for all families, but especially low-income urban households.

20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics. However, only a few cases of 20p13 microdeletion have been described, and therefore its typical features and precise pathogenesis remain elusive.
In this article, we report the case of a 9-month-old infant who presented with a large fontanelle, facial dysmorphism, and failure to thrive. Array-comparative genomic hybridization (aCGH) analysis confirmed a 2.01-Mb microdeletion in chromosome band 20p13 that involved SOX12 and NRSN2, both of which are considered paramount causative genes in patients with 20p13 microdeletion. To elucidate the typical features of 20p13 microdeletion, we further reviewed these previously reported cases and found that motor delay (90%) was the most common manifestation, followed by language delay (60%), abnormal digits (60%), mental retardation (50%), large fontanelle (50%), electroencephalography abnormalities (50%), and seizure (40%).
This report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion.

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