Children's Hospital of Philadelphia Study Highlights Deeper Understanding of Genetic Links between Childhood Speech and Language Disorders

Findings offer new insights with potential to inform diagnosis and treatment

PHILADELPHIA, Oct. 16, 2024 /PRNewswire/ -- Researchers at Children's Hospital of Philadelphia (CHOP) announced the results of a new study highlighting significant genetic links in speech and language disorders in children. The findings, published today in the journal Brain, mark the first time that researchers have studied the genetic basis of linguistic differences separately from other conditions.

Genetic factors are known to play a role in speech and language disorders, and the researchers hoped their study would bridge a gap in knowledge to better understand this critical area impacting child development. The research was a collaboration between CHOP's Department of Speech-Language Pathology, the Division of Neurology and the Department of Biomedical and Health Informatics (DBHI).

"Our findings highlight the intricate relationship between genes and speech and language development," said Jan Magielski, the study's first author and a data scientist within CHOP's Division of Neurology and Department of Biomedical and Health Informatics. "We hope that the novel connections between genetic causes and specific speech and language disorders reported in the study will offer new and innovative possibilities for earlier intervention and personalized treatment plans."

In the study, researchers analyzed electronic medical records of more than 52,000 children treated at CHOP to identify and analyze 26 broad speech and language diagnoses. They found that genetic causes play a major role in speech and language disorders, which are diagnosed more frequently in children between the ages of two and five. While conditions like aphasia, characterized by difficulty speaking, and speech apraxia, or trouble making speech movements, were accurately identified, some speech and language disorders were found to be frequently undetected. Most importantly, stuttering is often underreported in medical records.

Their innovative data analysis approach allowed researchers to make three crucial observations. First, they found significant variations in the frequency of speech diagnoses, with mixed receptive-expressive language disorder and developmental disorder of speech and language being the most common diagnosis. Second, the authors observed that speech and language disorders have considerable overlap with neurodevelopmental disorders, movement disorders, and epilepsy. Lastly, the researchers noted that distinct speech characteristics can be linked to specific genes and overlap with known neurodevelopmental conditions.

The study connected the genes STXBP1, PTEN and CACNA1A with speech and language disorders. Certain variants of STXBP1 were associated with aphasia while variants of the gene MYO7A were linked with delays in speech and language due to hearing loss.

Additionally, in a subset of 726 children with whole exome sequencing data, researchers identified rare genetic changes, linking associations of UQCRC1 and KIF17 with expressive aphasia, MROH8 and BCHE with poor speech, and USP37, SLC22A9, and UMODL1 with aphasia.

"In the future, we anticipate more targeted studies that delve deeper into the genetic landscape of speech disorders," said Joe Donaher, PhD, CCC-SLP, a senior study author and the Research and Academic Program Director at CHOP's Center for Childhood Communication. "Our study results underscore the need for focused investigations, particularly in areas like stuttering, where genetic research has significantly lagged behind other fields."

This study was supported by The Hartwell Foundation through an Individual Biomedical Research Award. This study received support from the National Institute for Neurological Disorders and Stroke, and intramural CHOP funds from the Epilepsy NeuroGenetics Initiative (ENGIN).

Magielski, et. al. "The clinical and genetic spectrum of paediatric speech and language disorders." Brain. Online October 16, 2024. DOI: 10.1093/brain/awae264.

About Children's Hospital of Philadelphia:
A non-profit, charitable organization, Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its CHOP Care Network, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout Pennsylvania and New Jersey, as well as the Middleman Family Pavilion and its dedicated pediatric emergency department in King of Prussia. In addition, its unique family-centered care and public service programs have brought Children's Hospital of Philadelphia recognition as a leading advocate for children and adolescents. For more information, visit https://www.chop.edu. 

Contact: Kaila M. Revello
Children's Hospital of Philadelphia
267-426-6054
[email protected]

SOURCE Children's Hospital of Philadelphia