Abstract
:Introduction:Pierre Robin sequence (PRS) comprises of mandibular micrognathia, glossoptosis and airway obstruction, leading to life-threatening obstructive apnoea and feeding difficulties during the neonatal period.About 17.9% children with PRS were reported to have Autism Spectrum Disorder (ASD). The finding that almost one fifth of the male patients with PRS had a diagnosis of ASD should be investigated further. Here we report a case of Autism in male child with PRS.Case Description:This child was a second born of a non-consanguineous marriage to 27 year old mother who was Rh negative and ICT negative.The child had delayed cry at birth, with SVT. He was born with opisthotonic posturing and required bag and mask ventilation for 15 seconds.There was retrognathia, cleft palate, glossoptosis and caput succedaneum with prominent frontal bones. There were no low set ears, no chest or abdominal wall deformity or limb or spine abnormality.The child at age of 3 years was now brought to our OPD with mild delay in all domains of development with an intellectual level of 2 and half years at the age of 3 years. The child had inconsistent reciprocal response to name calling, poor joint attention, fleeting eye contact with poor instrumental and reciprocative gesturing.He had a vocabulary of 15-20 words, could count 1-15, could tell his name which was now deteriorated to just bi-syllabic babbling and producing variety of sound. There was a sudden regression in social, language and cognitive domain of development. Possibility of neurological cause was ruled out. MRI brain was suggestive of dolichocephalic skull with trigonocephaly with aqueductal stenosis with mild supratentorial ventriculomegaly and giant cisterna magna.Future research should explore a possible genetic double association or any causal links that are not yet identified between ASD and PRS.Authors: Dr. Dron K. Bhandutia, Dr. Dhanashree Akshatha (LOM), Prof. Dr. Sathyanarayana M.T.(LF 19204)Sri Siddhartha Medical College, Tumakuru-572107, Karnataka.Dr. Dron K. Bhandutia, Final year Postgraduate, Dept. of Psychiatry, Sri Siddhartha Medical College, Tumakuru-572107 Karnataka.Contact Details: 8200297318/8401841054 (Whatsapp) E-mail: landmark.bhandutia@gmail.com
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
