Abstract
Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD.
Highlights
Xia–Gibbs syndrome (XGS) is a rare disorder discovered in the last decade caused by de novo mutations within a critical region of the AT-Hook DNA Binding Motif Containing 1 (AHDC1) gene, identified performing whole-exome sequencing
This syndrome is characterized by global development delay, intellectual impairment, structural anomalies of the brain, global hypotonia, feeding issues, sleep difficulties and apnoea, facial dysmorphisms, and short stature [1,2]
We report an additional female patient whose phenotype deserves attention, since she does not present intellectual disability as most patients described in the literature, but shows a peculiar cognitive and behavioural profile indicative of high-functioning autism spectrum disorder (ASD)
Summary
Xia–Gibbs syndrome (XGS) is a rare disorder discovered in the last decade caused by de novo mutations within a critical region of the AT-Hook DNA Binding Motif Containing 1 (AHDC1) gene, identified performing whole-exome sequencing. AHDC1 function is still not fully understood: it may be involved in DNA repair as well as epigenetic and transcriptional regulation during axon genesis, with potential consequences on neurodevelopment [1]. This syndrome is characterized by global development delay, intellectual impairment, structural anomalies of the brain, global hypotonia, feeding issues, sleep difficulties and apnoea, facial dysmorphisms, and short stature [1,2]. We report an additional female patient whose phenotype deserves attention, since she does not present intellectual disability as most patients described in the literature, but shows a peculiar cognitive and behavioural profile indicative of high-functioning autism spectrum disorder (ASD). On the basis of the current case report and the review of the literature, we further explore a neglected issue, i.e., the behavioural and psychiatric pattern associated with XGS, with a particular focus on autistic features
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