Abstract
Autism spectrum disorder (ASD) and achondroplasia are common disorders on their own. However, this case of co-occurrence in the same patient has not yet been reported in literature except for a hypothesized statistical probability based on prevalence studies stating that two to five in 10 million children could have the probability of having both conditions occurring simultaneously. Achondroplasia typically presents with motor delays and difficulties that are related to musculoskeletal impairments that can affect self-care, mobility, and social cognition; however, the presence of delays in other domains of development, particularly in social communication, raises a suspicion of a co-occurring autism spectrum disorder. The content of this report reviews the common delays and difficulties seen in children with achondroplasia and those with autism spectrum disorder and describes the presence of both in the child presented in this case.
Highlights
Autism spectrum disorder (ASD) is a developmental disorder that manifests as difficulties with social communication and interactions and restrictive or repetitive behaviors or interests [1]
The case is a female, Filipino child born at 37 weeks’ age of gestation. Her skeletal dysplasia was identified on fetal anomaly scanning during pregnancy and was diagnosed with achondroplasia after birth
Achondroplasia is a genetic disorder with characteristic phenotypic presentation of disproportionate short stature, craniofacial and skeletal abnormalities, and motor developmental delays
Summary
Autism spectrum disorder (ASD) is a developmental disorder that manifests as difficulties with social communication and interactions and restrictive or repetitive behaviors or interests [1]. At 39 months, she meets the DSM-5 criteria for autism spectrum disorder, manifested by her delays in communication and social skills She presented with repetitive and stereotypic behaviors such as a fascination of shadows and hand flapping and would demonstrate repetitive tapping of objects (i.e., pencil) and her hands against hard surfaces like the table. The child’s communication score was 6 (cut-off = 4), and social interaction was 8 (cut-off = 7), which both reached the cut-off for autism Management of her developmental delays and behavioral concerns continues to be targeted through speech and language therapies that focus on pre-language skills, pragmatics, and communication of her needs and wants. She receives special education with focus on self-regulation and engagement, and behavior modifications to allow her to be involved in learning activities
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