Neuromotor, sensory, language, communication and social development, and cerebral MRI and PET studies were performed in 8 children with 22ql3.3 deletion syndrome, at the National Institutes of Health, Necker-Enfants Malades Hospital, and other centers in Paris, France. A common developmental profile was characterized by hypotonia, sleep disorders, excessive crying, poor response to the environment suggestive but not diagnostic of autism, expressive language delay, sensory processing and neuromotor disorders. Cognitive tests revealed mild-to-severe delay in all developmental milestones, verbal and imitation more than motor skills. Episodic symptoms prompting an EEG included acute hypotonia, repetitive rolling of tongue, eyelid flutter, vagal syncope, and standing still at attention. One had bifrontal spikes but none had epilepsy. Brain MRI was normal or showed a thin corpus callosum, and PET studies identified a localized dysfunction of the left temporal lobe and hypoperfusion in the amygdala, as compared to a group of mentally retarded control children. This description of an underdiagnosed syndrome should lead to more frequent recognition. [1]

COMMENT. The neurobehavioral description of the 22ql3.3 deletion syndrome resembles that of pervasive developmental disorders but is distinct from autism. The 8 children in this study shared a common developmental course characterized by hypotonia, sensory and sleep disorders, global developmental delay, lack of emotion and inappropriate facial expression, episodic and stereotyped movements and postures. These symptoms should prompt a chromosome analysis with special attention to the 22qter deletion.