Module 5- Syndromes: Treacher Collins, 22q11.2 Deletion, Pierre Robin, Moebius

Module 5- Syndromes: Treacher Collins, 22q11.2 Deletion, Pierre Robin, Moebius


Hi my name is Cate Crowley from Teachers College, Columbia University. Welcome to Cleft Palate Speech and Feeding Video
Tutorials: Module 5. In this module, we’re going to look at various syndromes
that often have cleft palate associated with the syndrome. We’re going to look at Treacher Collins
syndrome, 22q11.2 Deletion syndrome, Pierre Robin sequence and Moebius syndrome. So the genetics of cleft lip, with or without cleft palate, there’s a substantial underlying genetic pathogenesis. Most cases are isolated with no associated syndromes or other birth defects. A substantial number are
caused by multiple congenital syndromes or by multiple congenital anomaly
disorder. Next, we are going to discuss Treacher
Collins syndrome. This is when there is an under
development in the facial bones, especially impacted are the cheekbones. Associated with this syndrome is also cleft palate. Children with Treacher Collins may have a very small jaw, chin and their skull is shaped atypically. They
also may have a tiny nose, mouth, and their throat airways may be very small. There are also potential eye, dental, and
hearing issues. Typically, there are no delays in cognition or language. Here is
an example of a family we work with in South America. Both the father and
daughter have Treacher Collins syndrome. Another very common syndrome associated with cleft palate is 22q11.2. According to the International 22q11.2 Foundation,
22q11.2 occurs in one in every 2,000- 4,000 live births. 22q is the
second leading cause of congenital heart defects. There are no differences in
regards to gender, so there’s no differences in prevalence with males or
females. It affects them at equal rates. There are
also other significant variability across children who are affected. There are heart abnormalities, cognitive deficits, language deficits, immune dysfunction,
growth disturbances, developmental abnormalities, psychiatric abnormalities,
and learning difficulties. 22q was previously known as DiGeorge syndrome, Velocardiofacial syndrome, and Shprintzen syndrome. Now, all are called 22q11.2 deletion syndrome, as all are caused by the same chromosomal deletion. It is also important to note that there is an under diagnosis of Africans and others from
the African Diaspora with 22q11.2. However, there are no race differences in
terms of prevalence, but there has been shown to be an under diagnosis in Africans and those from the African Diaspora due to similar facial features
associated with 22q11.2. How is 22q diagnosed? It is diagnosed with a blood test. The common fish test is used to diagnose and it finds the 22q11.2 deletion on the chromosomes. There’s also a microarray analysis and
this is more sensitive as it identifies 22q deletion and 22q duplications. Children with 22q also have velopharyngeal dysfunction. Only five to ten percent of those with 22q11.2 have a visible cleft palate that requires surgical repair. A majority of patients with 22q11.2 have hypernasal speech. This can either be due to a submucous cleft or a cleft palate that appears to
be adequate, but does not function appropriately for speech due to velopharyngeal disproportion, that is the posterior pharyngeal wall is set further
back. Therefore, the velum cannot contact. Palatopharyngeal disproportion: The
palate, although it may appear typical, is unable
to touch the posterior pharyngeal wall. This is very typical in children with
22q11.2. The palate structure and palate length
are normal. However, the posterior pharyngeal wall is
set further back. Meaning there is a deep pharynx in patients who have 22q11.2. Approximately 90%-95% of those with 22q have a speech or language delay, such as articulation deficits and 75% in
patients with poor speech intelligibility. They have difficulty
producing speech sounds, there’s a delayed onset of first words, with
70% of kids with 22q being nonverbal at the age of 2. So there are
delayed expressive skills, comprehension issues, but generally comprehension is
stronger than their expressive skills. And there’s also deficits in social
language. In addition to the deficits we just discussed, children with 22q also
exhibit hypernasal speech, which is due to the palatal dysfunction. We also can see voice disorders, so a
hoarse, breathy voice or low volume, vocal fold paralysis or laryngeal web,
and we can also see motor speech disorders. Such as dysarthria, cranial
nerve abnormalities, or apraxia. So now I’m going to talk a bit about Pierre Robin sequence. The characteristics of Pierre Robin sequence generally are a wide,
bell-shaped cleft palate. Micrognathia, which is a small jaw, or mandible, you see
with that picture right there. Very teeny jaw. Almost non-existent there. It’s also
known as retrognathia. And Glossoptosis, which is the atypical placement
in the back of the throat of the tongue. The tip of the tongue is typically
downward and back. The cause is during utero the small mandible does not hold the tongue. The tongue cannot lay in that bed there,
so the tongue is high in the oral cavity and so it interferes with the closing of
the velum, which is why the palate has a similar shape. The cleft palate has a
similar shape to the shape of the tongue. In Pierre Robin sequence, there can be
some very severe breathing complications because following birth the glossoptosis, the tongue, is typically downward and back and it can block the upper
airway. This may cause severe respiratory distress. The prevalence
Pierre Robin sequence is 1 in 14,000 live births. 66% have that
classic U-shaped cleft palate, 33% had other malformations and
6/10 (60%) have another syndrome called Stickler
syndrome. Another syndrome, which can be associated with cleft palate, is Moebius syndrome. This predominantly affects the 6th-Abducens and 7th- Facial cranial
nerves, but other cranial nerves can also be affected. These children can often have difficulty
smiling, frowning, or blinking their eyes, difficulty with lateral eye movements,
and generally they have normal intelligence and cognition. The prevalence is an estimated 2-20 per 1 million people. So their physical appearance, they have a small chin (micrognathia), small mouth (microstomia), a short or atypical shape of their tongue, cleft palate, could have a high arch in
their oral cavity, potentially some missing teeth, and may have other limb
disturbances. Other impairments with Moebius syndrome: difficulty with
respiration, speech, feeding and swallowing issues, impaired vision,
sensory integration deficits, problem sleeping and upper-body strength
weakness. Next, we’ll see a video of a girl with
Moebius syndrome in Ghana and we can see she has difficulty putting her lips
together for the bilabial sounds. mah mmmmah mah In this next video, we will see a girl in South America who also has Moebius syndrome. There’s a little bit of variation
between the two children. For one child, the child in Ghana, we might use more of a speech approach with her, whereas the child in Colombia, we might
use an AAC approach. What happened on this page? What happened? So cleft palate is associated with many other syndromes, such as Stickler syndrome, Fetal Alcohol syndrome, Syndromic Craniosynostosis, Van der Woude syndrome, CHARGE, Apert syndrome, Trisomy 13, Oral-Facial-Digital syndrome, and Hardikar syndrome. This concludes Module 5 on syndromes. This and all of our other materials are available at www.leadersproject.org. Thank you.

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