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Joubert syndrome

Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. more...

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Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.

The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

Two genes that are mutated in individuals with Joubert syndrome have been identified. Mutation in gene of unknown function called AHI1 is associated with the majority of Jourbert syndrome cases. In cases where an individual has Joubert syndrome with progressive kidney disease to a gene called NPHP1 is mutated in addition to AHI1.

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More ills of in utero isotretinoin exposure: cognitive impairment - Obstetrics
From OB/GYN News, 10/1/03 by Nancy Walsh

TAMPA, FLA. -- Children who were exposed to isotretinoin in utero but appear normal at birth are still at risk for later appearance of cognitive impairment and difficulties in psychosocial functioning, Dr. Jennifer Anne Lantz Gavin said at a meeting of the Society for Research in Child Development.

Exposure to this isotretinoin is linked to high rates of spontaneous abortion, premature birth, and major malformations of craniofacial, cardiac, thymic, and CNS structures.

Long-term follow-up of 10 boys born without any of these more obvious disabilities has found that their psychosocial development at 10 years is similar to that of children with nonverbal learning disabilities and cerebellar mal-formation syndromes such as Joubert syndrome and spina bifida. Cerebellar abnormalities characterizing these conditions include hypoplasia and microdysgenesis.

Specific patterns of verbal strengths and visual-spatial difficulties appear at age 5 in studies of children with embryonic exposure to isotretinoin. These patterns remain constant 5 years later, said Dr. Lantz Gavin of the University of Massachusetts, Boston.

The IQ scores of the exposed boys were significantly lower, compared with scores of 20 unexposed controls (87.7 vs. 109.8), as measured on the Wechsler Intelligence Scale for Children.

COPYRIGHT 2003 International Medical News Group
COPYRIGHT 2003 Gale Group

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