Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.

The team hunted every paper that linked Sanfilippo syndrome with autism traits. They read the full text of each study and pulled out what behaviors looked autistic.

No new kids were tested; the work is a map of past cases.

Most children with Sanfilippo talked late or lost words. Hand-flapping and strict routines showed up less often.

Doctors sometimes gave an autism label before the metabolic disease was spotted.

Beck et al. (2021) widened the lens. Their review shows many metabolic problems, not just Sanfilippo, travel with autism features. Cohrs et al. (2017) is one piece inside that bigger picture.

Barone et al. (2016) tells a similar tale. One teen with a different storage disease first looked autistic. Both papers warn: check for metabolic red flags before locking in an autism diagnosis.

Dimitropoulos et al. (2019) adds Prader-Willi to the list. Preschoolers with that syndrome also show social delays that mimic autism. The pattern keeps repeating: rare genes can wear autism’s mask.

If a child’s language stalls and they also have big liver, coarse face, or sleep screams, think Sanfilippo. Push the pediatrician for a urine screen before you write a plain autism plan. Catching the right disease opens doors to trials and keeps you from wasting hours on the wrong goals.