Today’s guest post on genetic syndromes comes from Rebecca Freeh Thornburg, who is contributing on CHARGE Syndrome.
CHARGE Syndrome is an extremely complex genetic condition encompassing anomalies of multiple systems. CHARGE affects approximately 1 in every 9 to 10,000 live births, worldwide. Respiratory issues and complex cardiac defects often require early and frequent hospitalization and surgical intervention. Characteristic hearing and vision impairments also contribute to delays in development. Early and ongoing intervention by speech-language pathologists and other members of a multi-disciplinary care team is critical in achieving best outcomes for children affected by CHARGE.
Cardinal features of CHARGE Syndrome include:
- Ocular coloboma: a cleft-like malformation of the eye, which can affect one or more structures and results in significant vision loss but not always blindness. This is present in 80-90% of cases.
- Choanal malformations: Passages leading from the nose to the throat are narrowed or blocked by bony formations or membranes. These contribute to respiratory difficulties, feeding/swallowing difficulty, and changes in voice and resonance.
- Cranial nerve involvement: I, IX, X and VII are frequently affected, resulting in reduced or absent sense of smell, dysphagia and aspiration, and varying degrees of facial paralysis.
- Ear malformations: Features include a “floppy,” assymetrical pinna with decreased folds. Malformed or absent ossicles result in conductive hearing loss, while cochlear defects result in sensorineural loss, combining in typical severe to profound mixed hearing loss. Changes in the semi-circular canals can also affect balance and sensory regulation.
Other common features include complex heart defects such as Tetralogy of Fallot. These are present in up to 75% of cases and most often must be corrected soon after birth. Cleft lip and/or palate may be present in up to 20% of cases. Children may also have kidney and genital/urinary malformations. Due to low muscle tome, gross and fine motor skills are often delayed.
Physically, children with CHARGE are most often small in stature and appear young into teenage and adult years due to growth hormone insufficiency. Facial characteristics can vary widely in expression, such that facial features are not necessarily considered as a major diagnostic indicator. These may include prominent forehead, large eyes with drooping lids, broad nasal bridge, and facial assymetries. There is often a “hockey stick” shape noted in the palmar crease.
Differential Diagnosis: CHARGE shares features with other genetic conditions including Velo-Cardio-Facial Syndrome (DiGeorge) as well as Kabuki Syndrome. Genetic testing, though becoming more available, is rare in this diagnosis, and is still done primarily by clinical observation.
Speech and Language Considerations:
Communication outcomes are best with the earliest possible intervention. The degree of hearing loss and cranial nerve involvement, as well as the presence of cleft lip/palate will be important factors in treatment planning. Additional factors to address include:
- Feeding and swallowing: 80-90% of children have ongoing management needs for oral and pharyngeal dysphagia.
- Communication: Due to vision and hearing impairment, early, intensive therapy utilizing a multi-modal, multi-sensory approach to develop symbolic communication through signs, spoken language, visual/tactile symbols, or AAC technology is critical. Optimization of presymbolic communication, including natural gestures and vocalization, is an important first step.
- Speech Production: Optimal aural rehabilitation is a critical factor in speech development. For children who do use speech as a primary means of communication, functional intelligibility is a key concern.
Awareness and accommodation to the challenges posed by hearing and vision losses are the most important factors in reducing the cognitive and behavioral challenges in CHARGE syndrome. The frequency of invasive medical procedures for these children is another important factor to consider. Behavioral challenges can also stem from difficulty with communication and sensory regulation, and good therapy will minimize these with time.
Well-coordinated treatment is critical in CHARGE. In addition to the SLP, the team may include:
- Medical/surgical specialists, especially cardiology
- Occupational and Physical Therapy
- Special Education
- Orientation and Mobility
- Vision Specialist
As always, family involvement and education is pivotal in achieving optimal outcomes for communication and development.
CHARGE children are often spunky, resilient, and inspiring people, eager for fun and progress. The diverse presentation and unique challenges of the CHARGE diagnosis make our work as SLPs both interesting and rewarding!
Rebecca Freeh Thornburg, M.S., CCC-SLP is the Owner/Director of Can Do Kids Therapy Services, LLC, a private practice located in southeastern Pennsylvania. An ASHA-certified speech-language pathologist for 14 years, Rebecca is a graduate of Nazareth College of Rochester and the University of Arizona. She is a specialist in pediatric communication disorders and augmentative communication.