Velopharyngeal dimensions in patients with 22q11 deletion
Research type
Research Study
Full title
Velopharyngeal dimensions in patients with 22q11 deletion syndrome with submucous and occult submucous cleft palate
IRAS ID
237705
Contact name
Loshan Kangesu
Contact email
Sponsor organisation
Mid Essex Hospital Services NHS Trust
Duration of Study in the UK
0 years, 3 months, 28 days
Research summary
During normal speech the soft palate (Velum) seals the oropharynx from the nasopharynx by lifting and closing against the posterior and lateral surfaces of the pharynx. Hence speech is largely oral. If this mechanism fails there is velopharyngeal insufficiency and speech sounds are hyper-nasal since they resonate within both the oral and nasal pharyngeal spaces. Two groups of patients are typically referred to our surgical clinic for the management of Velopharyngeal Insufficiency. One group being born with a cleft palate who have undergone surgical repair in infancy and a second group who have an intact palate. Among the latter group are children with the genetic ‘chromosome 22’ defect known as ‘22q11.2 deletion syndrome’ (otherwise & historically known as ‘DiGeorge syndrome’ (DiGeorge, 1968) prior to its genetic linkage being elucidated in the early 1980s (de la Chapelle et al. 1981, Restivo et al. 2006). Anatomically, the palate of ‘22q11.2 deletion syndrome’ patients may appear with features of a Sub-Mucous Cleft Palate (SMCP) and have abnormal movement when visualised on lateral video fluoroscopy (Kaplan, 1975). In other ‘22q11.2 deletion syndrome’ patients the palate appears normal but has abnormal movement on x-ray and is termed Occult Sub-Mucous Cleft Palate (OSMCP) (Kaplan, 1975).
We have observed that children with ‘22q11.2 deletion syndrome’ tend to have a poorer functional outcome following surgery when compared to others and have hypothesised that they may have a larger pharynx in relation to the size of their palate which anatomically may underpin their presenting velopharyngeal insufficiency and difficulties in speech.REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
17/NW/0679
Date of REC Opinion
28 Nov 2017
REC opinion
Favourable Opinion