Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.

[22q11.2 deletion syndrome]

The 22 q 11 .2 deletion syndrome (22 q 11 DS ) presents with medical and neuropsychiatric manifestations including neurocognitive deficits . Quantitative neurobehavioral measures linked to brain circuitry can help elucidate genetic mechanisms contributing to deficits . To establish the neurocognitive profile and neurocognitive 'growth charts ', we compared cross-sectionally 137 individuals with 22 q 11 DS ages 8 -21 to 439 demographically matched non-deleted individuals with developmental delay (DD ) and medical comorbidities and 443 typically developing (TD ) participants . We administered a computerized neurocognitive battery that measures performance accuracy and speed in executive , episodic memory , complex cognition , social cognition and sensorimotor domains . The accuracy performance profile of 22 q 11 DS showed greater impairment than DD , who were impaired relative to TD . Deficits in 22 q 11 DS were most pronounced for face memory and social cognition , followed by complex cognition . Performance speed was similar for 22 q 11 DS and DD , but 22 q 11 DS individuals were differentially slower in face memory and emotion identification . The growth chart , comparing neurocognitive age based on performance relative to chronological age , indicated that 22 q 11 DS participants lagged behind both groups from the earliest age assessed . The lag ranged from less than 1 year to over 3 years depending on chronological age and neurocognitive domain . The greatest developmental lag across the age range was for social cognition and complex cognition , with the smallest for episodic memory and sensorimotor speed , where lags were similar to DD . The results suggest that 22 q 11 .2 microdeletion confers specific vulnerability that may underlie brain circuitry associated with deficits in several neuropsychiatric disorders , and therefore help identify potential targets and developmental epochs optimal for intervention .

Diseases
Validation

Diseases presenting "developmental delay" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

alpha-thalassemia

aniridia

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

gm1 gangliosidosis

harlequin ichthyosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated