Angelman syndrome in three biological siblings: Focusing on the neuropsychiatric domain
A 7-year-old female presented with complaints of delayed milestones and seizures. She is the 2nd order in the family, born of nonconsanguinity with normal birth and delayed milestone. She attained neck holding at the age of 2 years, sitting with support at the age of 3 years, standing without support at the age of 4 years, walking without support at the age of 5 years. She has only palmer grasp now, feeds herself without spilling, and spells only bisyllables and is not toilet trained. There was no regression of attained milestones. When she started walking independently, she walked with wide-based ataxic gait. She was always smiley with a history of inappropriate laughter and happy demeanor. She did not have history of limb incoordination or any extrapyramidal symptoms. Her intelligence quotient was found to be 24 on Seguin Form Board test, suggestive of severe MR.