Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review
Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (<i>AHDC1</i>) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, stru...
Main Authors: | , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-05-01
|
Series: | Children |
Subjects: | |
Online Access: | https://www.mdpi.com/2227-9067/8/6/450 |
id |
doaj-176a3dc6cbdd4dd6a04361e9e5371c5d |
---|---|
record_format |
Article |
spelling |
doaj-176a3dc6cbdd4dd6a04361e9e5371c5d2021-06-01T01:09:48ZengMDPI AGChildren2227-90672021-05-01845045010.3390/children8060450Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature ReviewStefania Della Vecchia0Roberta Milone1Romina Cagiano2Sara Calderoni3Elisa Santocchi4Rosa Pasquariello5Roberta Battini6Filippo Muratori7Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Calambrone, ItalyBackground: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (<i>AHDC1</i>) 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.https://www.mdpi.com/2227-9067/8/6/450Xia–Gibbs syndromeautism spectrum disordergenetic autism |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Stefania Della Vecchia Roberta Milone Romina Cagiano Sara Calderoni Elisa Santocchi Rosa Pasquariello Roberta Battini Filippo Muratori |
spellingShingle |
Stefania Della Vecchia Roberta Milone Romina Cagiano Sara Calderoni Elisa Santocchi Rosa Pasquariello Roberta Battini Filippo Muratori Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review Children Xia–Gibbs syndrome autism spectrum disorder genetic autism |
author_facet |
Stefania Della Vecchia Roberta Milone Romina Cagiano Sara Calderoni Elisa Santocchi Rosa Pasquariello Roberta Battini Filippo Muratori |
author_sort |
Stefania Della Vecchia |
title |
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review |
title_short |
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review |
title_full |
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review |
title_fullStr |
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review |
title_full_unstemmed |
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review |
title_sort |
focusing on autism spectrum disorder in xia–gibbs syndrome: description of a female with high functioning autism and literature review |
publisher |
MDPI AG |
series |
Children |
issn |
2227-9067 |
publishDate |
2021-05-01 |
description |
Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (<i>AHDC1</i>) 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. |
topic |
Xia–Gibbs syndrome autism spectrum disorder genetic autism |
url |
https://www.mdpi.com/2227-9067/8/6/450 |
work_keys_str_mv |
AT stefaniadellavecchia focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview AT robertamilone focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview AT rominacagiano focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview AT saracalderoni focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview AT elisasantocchi focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview AT rosapasquariello focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview AT robertabattini focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview AT filippomuratori focusingonautismspectrumdisorderinxiagibbssyndromedescriptionofafemalewithhighfunctioningautismandliteraturereview |
_version_ |
1721412946783895552 |