What is Stickler Syndrome?
Stickler syndrome, or hereditary progressive arthro-ophthalmopathy, is a genetic condition affecting the connective tissue collagen throughout the body. Although expression and severity varies between individuals, the primary features of Stickler syndrome include:
- a flat facial profile with underdeveloped mid-face or jaw
- prominent or widely spaced (hyperteloric) eyes
- depressed nasal bridge
- short, upturned nose
- long philtrum (groove above the upper lip)
- reduced size of nasal septum
Clefting (opening) of the soft and hard palate as well as ocular (vision) pathologies are also common primary features. Other minor associated features include musculoskeletal anomalies, cardiac defects and hearing impairment.
How common is it Stickler Syndrome?
Stickler syndrome is an autosomal dominant disease, meaning that 50% of an affected individual’s offspring will inherit the disease. Inheritance is equal between genders with a prevalence of 1 in 10,000 people. Although stickler syndrome is one of the most common connective tissue disorders, it is under diagnosed due to the great variability of symptoms. It is also commonly misdiagnosed as Pierre Robin Syndrome. Stickler syndrome is a progressive disorder, with symptoms likely to become more severe with age.
How does it affect Speech, Language and Swallowing?
The craniofacial features of stickler syndrome can lead to airway and feeding problems, as well as speech and language disorders/delay, in affected infants and children. Feeding difficulties occur through the child being unable to properly form a vacuum, or position the tongue, within the mouth during swallowing. Some may also have a smaller lower jaw, making swallowing difficult and causing weight loss initially after birth. Breast-feeding may be difficult and feeding tubes may be required in some cases to ensure sufficient nutritional intake (Nowak, 1998).
Speech and language difficulties are largely impacted by frequent ear infections and sensory-neural hearing loss associated with stickler syndrome. Children with stickler syndrome often undergo numerous surgical operations and extended hospitalisation periods, interfering with their language development.
Learning difficulties have also been associated with children with cleft syndromes, for instance, as high as 50% of 6-7 year old children with cleft palate have an associated reading disability (Richman, Eliason & Lindgren, 1988).
Speech disorders often occur due to palatal abnormalities, such as cleft palate/lips and velopharyngeal (insufficient closure between the mouth and nose). Velopharyngeal causes air to escape from the nose during speech, resulting in difficulties producing certain sounds: particularly consonants. Children will try to compensate for this inability to achieve exact sounds, often causing hypernasal speech and atypical articulation patterns (Nowak, 1998).
Both receptive and expressive language development may be slower, with lower variety and use of language forms (Philips and Harrison, 1969). Children with Stickler syndrome often present with delays in the appearance of first words and two-word phrases, less complex language structure, fewer words and gestures, as well as poorer vocabulary comprehension (Kuehn & Moller, 2000).
How can a Speech Pathologist help?
In most cases, surgery is required to remediate structural abnormalities (i.e., closing the cleft palate) to assist with breathing and hearing complications. A Speech Pathologist can conduct a feeding assessment for appropriate food textures’, feeding strategies and utensils to ensure a child is safely swallowing. The Speech pathologist will also perform ongoing assessment and therapy, especially throughout early childhood, to ensure that the child’s language skills are developmentally appropriate. Ongoing Speech therapy often involves speech sound production training, often targeted at consonants (most affected sounds), as well as language structure and content.
You can read more about sticker syndrome here at stickler.org
For more information on this topic or any speech related fields, call ENT Clinic on 1300 123 368 and make an appointment with our speech pathologists Ashleigh Fattah or Jenna Butterworth.
Richman, L. C , Eliason, M. J , & Lindgren, S. D. (1988). Reading disability in children with clefts. Cleft Palate Journal, 25, 21-25.
Kuehn, D. P., & Moller, K. T. (2000). Speech and language issues in the cleft palate population: The state of the art. Clef Palate–Craniofacial Journal, 37, 348–383.
Nowak C.B. (1998). Genetics and hearing loss: a review of Stickler syndrome. Journal of Communication Disorders 31 (5): 437–53; 453–4.
Philips, B and Harrison, R (1969). Articulation Patterns of Preschool Cleft Palate Children. Cleft Palate Journal, 6, 245-253.