Dataset Information

A Child with Kabuki Syndrome and Autism Spectrum Disorder.

ABSTRACT: Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects. We determined the lack of speech and eye contact, stereotypical behavior, and impaired social interaction and diagnosed him with autism and severe mental retardation via a psychiatric assessment. He had been followed up by pediatricians until he was 2 years old. Pediatricians noted his long eyelids with eversion of the lateral third of the lower eyelid, depressed nasal tip, short stature, long palpebral fissures, brachydactyly, and fetal finger pads in their physical examination. The boy who has an operated ventral septal defect and seizures was diagnosed with KS when he was 5 years old. We recommended his parents to apply to a special education agency and kindergarten for him. Our case is a new example of the coexistence of KS and ASD in addition to the very few cases in the literature. Genetic analyses conducted in the existence of specific genetic syndromes, such as KS, may provide opportunities for understanding the genetic etiology of ASD and new scope in terms of novel treatment approaches.

SUBMITTER: Sertcelik M

PROVIDER: S-EPMC5378211 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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A Child with Kabuki Syndrome and Autism Spectrum Disorder.

Sertçelik Mehmet M Uğur Çağatay Ç Şahin Aközel Aynur A Gürkan Cihat Kağan CK

Noro psikiyatri arsivi 20160901 3

Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantru ...[more]

PMID: 28373809

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Project description:BackgroundAutism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5-10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been identified. We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory.MethodsData was analyzed from 433 patients with autistic traits tested using chromosome analysis and/or fluorescence in situ hybridization (FISH) and/or molecular testing for fragile X syndrome by Southern and PCR methods.ResultsThe median age was 4 years. Sex ratio was 4.5 males to 1 female [354:79]. A chromosome (cs) abnormality was found in 14/421 [3.33 %] cases. The aberrations were: 4/14 [28%] supernumerary markers; 4/14 [28%] deletions; 1/14 [7%] duplication; 3/14 [21%] inversions; 2/14 [14%] translocations. FISH was performed on 23 cases for reasons other than to characterize a previously identified cytogenetic abnormality. All 23 cases were negative. Fragile-X testing by Southern blots and PCR analysis found 7/316 [2.2 %] with an abnormal result. The mutations detected were: a full mutation (fM) and abnormal methylation in 3 [43 %], mosaic mutations with partial methylation of variable clinical significance in 3 [43%] and a permutation carrier [14%]. The frequency of chromosome and fragile-X abnormalities appears to be within the range in reported surveys (cs 4.8-1.7%, FRAX 2-4%). Limitations of our retrospective study include paucity of behavioral diagnostic information, and a specific clinical criterion for testing.ConclusionsTwenty-eight percent of chromosome abnormalities detected in our study were subtle; therefore a high resolution cytogenetic study with a scrutiny of 15q11.2q13, 2q37 and Xp23.3 region should be standard practice when the indication is autism. The higher incidence of mosaic fragile-X mutations with partial methylation compared to FRAXA positive population [50% vs 15-40%] suggests that faint bands and variations in the Southern band pattern may occur in autistic patients.

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A Child with Kabuki Syndrome and Autism Spectrum Disorder.

Publications

A Child with Kabuki Syndrome and Autism Spectrum Disorder.

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