What is the Developmental Outcomes of Patients with 22q11 Deletion Sequence?
Discussion
22q11.2 deletion sequence (22q11) is the most common micro-deletion syndrome. Most deletions are de novo. It affects ~1 in 2000-4000 live births. As it is autosomal, it affects males and females equally. Childhood mortality is low and often associated with congenital heart defects.
Its phenotypic expression is highly variable.
Some of the most common medical problems are:
Congenital heart defects especially conotruncal abnormalities
Palatal problems especially velopharyngeal incompetence and/or cleft lip/palate
Immunodeficiency especially T-cell lymphopenia, but also abnormalities of IgG production, autoimmune and humoral defects
Hypoparthyroidism resulting in hypocalcemia – may be evident also only at times of stress
Genitourinary abnormalities – renal agensis, hydronephrosis, absent uterus, cryptoorchidism, hypospadias
Feeding – gastroesophageal reflux, dysphagia, constipation
Dysmorphic features included hooded eyelids, hypertelorism, auricular or nasal abnormalities, small mouth and micrognathia. Cleft lip, cleft palate and Pierre Robin Sequence are also seen.
Learning Point
The cognitive and social phenotypes of patients with 22q11 has a wide variability in the overall development and trajectory of individual children because of genetics and the environment. In infancy and early childhood (0-4 years) studies show more gross motor and expressive language delays compared to siblings or other controls. In preschool to adolescence (4-18 yea...
Source: PediatricEducation.org - Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
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