Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Background: About 20 years ago, the national neonatal screening program (PNTN) was implemented in Brazil for early screening, diagnosis, and treatment of some diseases, such as hyperphenylalaninemia (HP). This condition with inadequate treatment can result in neurological changes such as intellectual disability and autism spectrum disorder (ASD).

Objective: Describe the cases of patients with ASD from the PNTN in a center in Northeast Brazil.

Methods: Quantitative, descriptive, retrospective, observational study carried out at a referral center for the treatment of PH in Northeast Brazil from 2000 to 2022.

Results: Of the 168 patients seen, 9 (5.3%) had ASD. Only 1 case had a late diagnosis (12 years). There wasn't gender prevalence (50% male). The initial age ranged from 1 month to 8 years, with a median of 12 months. In this group, there're 4 families with affected siblings and treatment failure. Only the late case presents consanguinity and does not present recurrence in the family. Only 1 family lived in the capital. The other cases were from the interior of the state. Only 1 case was the genotype known (r408w/l249f). Seizures occurred in 3 cases from 2 families (2 siblings). All cases had an intellectual disability, and they are under outpatient follow-up. All of them showed temporary abandonment of treatment, dietary transgression, suspension of the use of the therapeutic formula, lack of consultation, and failure to perform laboratory tests, except in the case of late diagnosis. The medication used in most cases was risperidone. In 1 case there was a cleft lip and palate associated with HP.

Conclusions: Although HP is an autosomal recessive disease, most of the cases weren't consanguineous, in a region where consanguinity is frequent. Most cases followed up by the PNTN did not develop neurological impairment associated with signs of ASD. Although neonatal screening is an excellent program to prevent neurological impairment due to PH, every effort by the healthcare team must be made to avoid the neurological sequelae caused by this condition. Neurological changes should be avoided in patients with PH, as brain involvement worsens the prognosis and quality of life of these patients.

 

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Artikel online veröffentlicht:
18. September 2023