Abnormal Head Posture in Down Syndrome May Have Ocular Cause

Lara C. Pullen, PhD

September 30, 2011

September 30, 2011 — One in 4 children with Down Syndrome has abnormal head posture (AHP), and the cause may be neurologic or ocular, according to a 20-year retrospective review. AHP may be may be the result of neck and spine abnormalities or developmental delay.

The review suggests that a complete diagnostic workup should be undertaken in children with Down syndrome and AHP, as 35.9% of children will benefit from treatment. The review also notes that 9.4% of patients had spontaneous improvement of AHP over time and without treatment.

The work was performed by Alina Dumitrescu, MD, and colleagues at the University of Iowa in Iowa City, and was published online June 12 and in the September issue of Ophthalmology.

Dr. Dumitrescu explained to Medscape Medical News that "children with Down syndrome have numerous potential eye problems (from minor to serious), and their exam can be challenging sometimes. I do think that they should have at least 1 exam by a pediatric ophthalmologist before age 4 to 5 [years], if nothing is suspected, and be referred to a pediatric ophthalmologist if the primary care physician or parents have concerns."

AHP tends to develop in children with Down syndrome at age 3 to 3.5 years. Dr. Dumitrescu noted that a diagnosis of strabismus or nystagmus in a child with Down syndrome should raise the highest suspicion for developing an AHP, as the review found that incomitant strabismus was the most common cause of AHP (26.6%), followed by nystagmus (21.8%). Other causes include ptosis, refractive errors, hearing loss, atlantoaxial instability, neck and spine abnormalities, and torticollis.

These results contrast with a separate study of AHP in children without Down syndrome, published in 2005 in the American Journal of Ophthalmology (2005;140:65-68), which found that torticollis was the single most common cause of AHP in children without Down syndrome (55.5% of cases).

Dr. Dumitrescu advised that in the case of 19% of children with Down syndrome and AHP, no definitive cause for the AHP will be found. The review raised the possibility that some of these children may have Sandifer's syndrome, which is an uncommon syndrome characterized by gastrointestinal symptoms and abnormal posture of the head, neck, and trunk.

Anna Dusick, MD, FAAP, professor of pediatrics and division chief of Neurodevelopmental-Behavioral Pediatrics at the University of Wisconsin–Madison, who was not involved with the study, discussed the results with Medscape Medical News. She noted that these results are consistent with current guidance: "The American Academy of Pediatrics Health Supervision for Children with Down Syndrome advises that infants with Down syndrome be evaluated by their physician for cataracts immediately after birth, and if cataracts are not identified, referred to a pediatric ophthalmologist between 6 and 12 months of life, and annually between years 1 and 5. This may prevent late identification of ocular causes of abnormal head posture."

The review also suggests that there may be nonocular causes for AHP, and that these can be assessed by a neuromuscular specialist. Dr. Dumitrescu explained that an X-ray (now standard of care for children with Down syndrome) or computed tomography scan may be able to diagnose a cervical spine instability that can contribute to AHP.

The research was supported by a Marjorie Carr Adams Career Development Award from the Foundation Fighting Blindness and a Hope for Vision award and the National Center for Research Resources, National Institutes of Health. Dr. Dumitrescu and Dr. Dusick have disclosed no relevant financial relationships.

Ophthalmology. 2011;118:1859-1864. Summary


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