Journal of Plastic, Reconstructive & Aesthetic Surgery
ReviewPossible mechanisms and gene involvement in speech problems in the 22q11.2 deletion syndrome
Section snippets
Clinical features
To date, over 180 clinical features have been associated with the deletion2, 3 (see Table 1). The features show great inter- and intrafamilial variability. This variability is independent of the size of the deletion.5 Physical manifestations have been described which involve every organ system. The first presenting symptom is usually a congenital heart defect. Characteristic facial features are small ears, flat cheeks, a bulbous nose, hypertelorism, and almond-shaped eyes (see Figure 1). An
Management
Currently no accepted global protocol in the management of 22q11.2 deletion syndrome exists. After the international 22q11.2 deletion conference in Marseilles, France in 2006 this is under development. In the Netherlands a national guideline for the management of 22q11.2 DS has been in use for several years.13 As a rule, patients diagnosed with the 22q11.2 deletion usually undergo a series of evaluations, including cardiac, palatal, immunologic, otolaryngologic/audiologic, and developmental
Speech difficulties
One of the characteristic features of 22q11.2 DS is the presence of speech difficulties. Several studies have shown that children with the deletion show delayed language onset.15, 16, 17 In addition, a number of other communication disorders has been described. These include articulation, language, resonance, and voice problems. Palatal abnormalities may cause hypernasal speech and nasal air emission. Secondary to palatal anomalies and velopharyngeal insufficiency (VPI), compensatory
Genetic basis
The majority of patients who are clinically suspected of 22q11.2 DS and subsequently undergo genetic testing have a 3.0 megabase deletion. Less than 10% of patients has a smaller 1.5 megabase deletion and only few cases have unique smaller deletions.5The most commonly deleted region of 22q11.2 is known as the DiGeorge Chromosomal Region (DGCR) and comprises approximately 2.0 megabases (see Figure 2). It can be assumed that haploinsufficiency of one or more genes in this region may be
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Cited by (17)
Is there a correlation between skull base flexure and palatal anomalies in patients with 22q11 deletion syndrome and velopharyngeal dysfunction?
2021, Journal of Cranio-Maxillofacial SurgeryCitation Excerpt :Velopharyngeal dysfunction results from inadequate closure of the velopharynx during speech (Alaluusua et al., 2019; Muñoz et al., 2020). Several factors contributing to the high frequency of velopharyngeal dysfunction in 22q11DS have been reported, including platybasia (defined as flattening of the base of the skull >137°), adenoid aplasia, tonsil hypertrophy, hypotonia, congenital velar shortening and abnormalities of the pharyngeal muscles (Widdershoven et al., 2008). The cranial base angle is the angle in the cranial base vault produced in the sella region.
Robin Sequence: 5-Year Speech Outcomes - A Case-Control Study
2022, Plastic and Reconstructive SurgeryGenetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease
2020, Archives of Disease in ChildhoodMonogenic and chromosomal causes of isolated speech and language impairment
2015, Journal of Medical Genetics