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Deletion Syndrome 22q13 What the Dentist Should Know to Manage Children with Phelan-McDermid Syndrome Effectively - Exam 53 - Spring Summer 2014
Deletion Syndrome 22q13 (or Phelan-McDermid Syndrome) is a very rare genetic disorder characterized by general neonatal hypotonia, absent to delayed speech, and global developmental delays. With only 600 cases reported worldwide, the disease remains largely under-diagnosed, but diagnosis is on the rise. Current thinking suggests that 22q13 Deletion Syndrome may be one of the principal causes of idiopathic mental retardation. Patients with Phelan-McDermid Syndrome, especially children, can be a challenge for dental professionals, as it is often associated with autism.
1) Phelan-McDermid Syndrome:
Is caused by a microdeletion on the terminal end of chromosome 22 at the location designated q13.3.
May result from errors in a single gene (SHANK3/ PROSAP2) in the q13.3 region.
May result from a de novo mutation or from familial chromosomal translocations involving the 22 chromosome.
Is characterized by general hypotonia, absent to delayed speech, and global developmental delays.
All the above.
2) A patient diagnosed with Phelan-McDermid Syndrome may exhibit which of the following physical characteristics:
Alopecia, arthritic conditions, plagiocephaly
Dysplastic fingernails and toenails
Wide nasal bridge, pointed chin, dolichocephaly
Narrow nasal bridge, pointed chin, brachycephaly
b and c
3) Dental treatment of patients with Phelan-McDermid Syndrome includes:
Regular professional dental hygiene and fluoride treatments.
Orthodontic therapy to correct malocclusion and crowding.
Oral-motor therapy to alleviate chewing and swallowing problems.
Nutritional assessment for individuals with persistent gastroesophageal reflux (GER) and/or cyclic vomiting
All of the above.
4) Though uncommon in children with developmental disabilities, any suspected abuse should be documented in the patient's chart but not reported to Child Protective Services unless the dentist has secured positive proof of abuse:
5) Patients with Phelan-McDermid Syndrome may experience which of the following during dental treatment:
High tolerance of pain
Aggressive behavior in unfamiliar environments
b and c only
a, b, and c
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