2025 – PAGE 269 – GENETICS & INHERITED DISEASES

CHARGE SYNDROME

CHARGE syndrome is an acronym that stands for Coloboma, Heart defects, Atresia (choanal), Retarded growth, Genitourinary abnormalities, and Ear anomalies. (A coloboma is a hole or missing piece of a structure of the eye.) If you see a few of these findings, make the diagnosis. CHARGE syndrome is the leading cause of congenital deaf-blindness.

MNEMONIC: Imagine being on your way to take the board exam. You’re speeding because you’re running late when a funny-looking police officer with a heart-shaped head, a single EYE, a single NOSTRIL, and a single EAR rides up to you on his motorcycle to pull you over and CHARGE you with speeding!

• KEY: HEART represents cardiac defects, SINGLE EYE represents coloboma, SINGLE NOSTRIL represents choanal atresia, SINGLE EAR represents ear deformities, and the $-earring is to remind you that this CHARGE is going to cost you some very expensive time on your way to the exam, and money afterwards, so don’t speed!

COCKAYNE SYNDROME

Cockayne syndrome is characterized by PREMATURE AGING, photosensitive skin, growth failure, hearing loss, and vision problems.

MNEMONIC: Imagine a COCKY OLD MAN who lives in the woods as a hermit. The woods are being torn down to build new homes. When the bulldozers are close to his home, he FINALLY HEARS something and goes outside. He is BLINDED by the sun and quickly gets SUNBURNED. Since he’s such a COCKY OLD MAN, he raises his cane at the bulldozers and refuses to leave.

• KEY: COCKY = name of disease, OLD MAN = premature aging, FINALLY HEARS = hearing problems, BLINDED = vision problems, and SUNBURNED = photosensitivity.

AUTISM SPECTRUM DISORDER

Children with autism have delayed language, serious social impairment, and compulsive and repetitive behaviors. This is a CLINICAL diagnosis and is based on observations of the behavior of a child. At least one of the mentioned impairments must have been prior to the age of 3. Screen all children for autism at 18 and 24 months of age with a validated screening tool such as the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F).

PEARL: For autism or any clinical suspicion of a language/mental delay, start your workup with a HEARING TEST.

PEARL: The outdated term ASPERGER SYNDROME (AKA ASPERGER’S SYNDROME) is a milder form of autism. Patients have impaired social interactions and repetitive stereotypical behavior, but there is NO delay in language or cognitive development.

IMAGE: www.pbrlinks.com/AUTISM1