Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report

Martina Siracusano,Antonia Baratta,Assia Riccioni,Maurizia Baldi,Luigi Mazzone,Paolo Curatolo

doi:10.1186/s13256-019-2043-6

Abstract

BackgroundGreig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. Little is known about the neuropsychological phenotype and the developmental features of this syndrome.Case presentationWe describe the clinical features of a 7-year-old Italian white boy affected by Greig cephalopolysyndactyly syndrome in comorbidity with autism spectrum disorder and the case of his 45-year-old white father, carrying the same point deletion (c.3677del) in the GLI3 gene and showing subclinical autistic symptoms. We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative, and behavioral skills of the child. Concurrently, the father underwent his first psychiatric evaluation of cognitive skills and autistic symptoms.ConclusionsWe report the first clinical description of an association between autistic symptoms and Greig cephalopolysyndactyly syndrome in two members of the same family with the same genetic point deletion. Further research is required in order to draw an accurate conclusion regarding the association between Greig cephalopolysyndactyly syndrome and autism.

Highlights

Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly, macrocephaly, and ocular hypertelorism
Intellectual disability and developmental delay together with hydrocephalus and seizures are included in a more severe clinical phenotype [4, 6, 7] associated with a variant disorder characterized by a worse prognosis: the Greig cephalopolysyndactyly-contiguous gene syndrome (GCPS-CGS), caused by mutations larger than 1 Mb in the GLI3 gene [8, 9]
To the best of our knowledge, autistic symptoms have not been previously described in association with Greig cephalopolysyndactyly syndrome (GCPS) neither in the classical syndrome nor in its variant form (GCPS-CGS).We describe the case of a 7-year-old boy affected by GCPS and autism spectrum disorder (ASD) and the case of his 45-year-old father, affected by the syndrome and with subclinical autistic symptoms

Summary

Conclusions

This clinical case is the first description of an association between autistic symptoms and GCPS in two members of the same family with the same genetic point deletion. Either at a clinical or subclinical level, should be considered and investigated within the GCPS population in order to perform an early diagnosis and to begin the early intervention required. LM and PC read and approved the final manuscript. All authors read and approved the final manuscript. Ethics approval Ethical approval was not required for the publication of this case report as this does not involve sharing of the personal details of the patient. Author details 1Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.

Background

Discussion