According to studies (and specific studies on Ashlyn) from the Department of Molecular and Human Genetics at the Baylor College of Medicine, 1p36 deletion syndrome is a genetic condition that is caused by missing part of chromosome number 1. The word “syndrome” means a collection of features that consistently occur together. Chromosome testing indicates that my child has a small piece of genetic material at the tip of chromosome 1 missing at 1p36. This is called a deletion. The notation ‘p36’ indicates that the missing piece is on the short arm (p) of chromosome 1 at band 36. 1p36 deletion syndrome is estimated to occur in approximately 1 in 5,000 to 1 in 10, 000 individuals. In 1p36 deletion syndrome, an individual has a collection of recognizable physical features (i.e. facial features), growth and developmental delay, and related medical complications, such as vision problems and seizures.

Facial Characteristics
While individuals with this syndrome have facial features similar to their family members, they may also have the facial characteristics commonly seen in others with 1p36 deletion syndrome. These include a large, late-closing anterior fontanel (“soft spot”), deep-set eyes, small palpebral fissures (eyes), low set ears, pointed chin, microcephaly (small head size), and flat nasal bridge. Cleft lip and/or cleft palate have been seen in 17%. However, the presence of these features, as well as other facial findings, is quite variable.

Growth and feeding
The majority (85%) of children with 1p36 deletion have growth delays and problems gaining weight. These growth problems may or may not be associated with feeding difficulties. In children with severe difficulties, alternative medical interventions (such as tube-feeding or dietary management) may be required in order to obtain optimum nutrition.

Neurologic manifestations
Approximately 55-60% of children with this syndrome had a history of seizures; with 50% (15 out of 31) having chronic seizures (epilepsy) requiring anticonvulsant medications. In addition to the seizures, many infants will also have low muscle tone making it very difficult to reach their developmental milestones on time.

Cognition and behavior
Nearly all children with 1p36 deletion syndrome have been shown to have to some degree of developmental delay and /or cognitive disability (mental retardation). Speech is often more delayed than other skills (such as rolling, walking, etc.). Since the description of this condition is relatively recent, it is difficult to predict the full spectrum of cognitive abilities in children and adults with 1p36 deletion, however, we should remain hopeful that your child would develop to the best of her potential. At this time, we cannot predict where along the spectrum your child will fall. Although, it has been shown in other children with genetic syndromes or developmental delay, that early intervention (physical therapy, occupational therapy, speech therapy) is very beneficial in helping children reach their greatest potential.

Cardiac (Heart) manifestations
Approximately 45% if infants with this condition will have a heart problem. This problem may be structural and/or functional. Therefore, it is recommended that all infants with 1p36 deletion have a cardiology evaluation with an echocardiogram.

Vision or eye problems
Several different vision or eye problems have been reported in children with 1p36 deletion. The incidence of vision problems range from 75%-85% in different studies. Vision problems may be corrected with the use of glasses or other interventions.

Hearing problems
Hearing impairment has been identified in 55-80% of children with this syndrome. In one study of 28 children, 23 had some degree of hearing impairment. Of those 23, 11 had hearing loss characterized as mild high frequency sensorineural hearing loss. The other 12 individuals had more severe hearing impairment.

Other Complications
Hypothyroidism (low thyroid hormone) has been found in approximately 20% of children. Therefore, it is recommended that thyroid function tests be performed at birth, 6 months, and annually thereafter.

As true in other genetic conditions, we do not expect all children with 1p36 deletion syndrome to have all of these features. However, it is still important for the family and your child’s doctors to be aware of the possibility of them occurring should she need any medical interventions.

Currently, there is no specific treatment or cure for this condition. The approach to the management of children with chromosome 1p36 deletions is similar to all children who have a complicated medical condition. This approach is often called multidisciplinary, and simply means that many different specialists will evaluate your child over the first few years of life. As she progresses, certain problems will determine which specialist she continues to see. The recommendation for Ashlyn would be to continue evaluations by the following programs and medical specialists: *Services can be obtained through ECI in your county. Through such a program, children may benefit from specific exercises involving gross and fine motor activities, language skills, and self help skills.