Rett Syndrome Research Paper
LETTERS TO THE EDITOR
INDIAN PEDIATRICS 297 VOLUME 41__MARCH 17, 2004 stereotypic hand wringing and washing movements. All her milestones virtually regressed over one year after an episode of bronchopneumonia. Environmental factors like fever has been reported to trigger the onset of RS in genetically predisposed subjects, though there are hardly any reports in the literature. Seizures are one of the supportive criteria but these are overestimated. Nonseizure events like twitching/jerking/head turning/trembling/bruxism/staring/laughing/ pupillary dilatation/breath holding and hyperventilation are usually confused with seizures(2). Role of video EEG is very important for diagnosis and to avoid the overprescription and adverse …show more content…
The parents noticed gradual regression of her speech and useful hand movements. The child also developed sterotypic midline hands and lip movements simulating air blowing.
Speech and purposeful hadn movements were completely lost in 6-8 months. Meaningful play regressed over one-year. Hearing, vision and sleep remained normal. There was no history of seizures prior and during the course of illness. She could still walk but was unable to run/climb stairs. She also has unprovoked bouts of laughter. During examination she spontaneously hyperventilated twice for about
30-40 seconds and had reflex generalized flexor myoclonus to sudden loud sound. Her eye contact and response to pain was very poor.
Spontaneous walking and picking things was normal. She did not pay any attention to toys in the playroom and did not obey any command.
Tone and deep tendon reflexes were normal.
Fingers in both hands were small and tapering.
Rest of the examination, including fundi was normal. EEG/ECG and CT scan did not reveal any abnormality. Chromosomal analysis was not carried out.
This child had characteristics features of
Rett syndrome including the age at onset, loss of communication and acquired hand
INDIAN PEDIATRICS 297 VOLUME 41__MARCH 17, 2004 stereotypic hand wringing and washing movements. All her milestones virtually regressed over one year after an episode of bronchopneumonia. Environmental factors like fever has been reported to trigger the onset of RS in genetically predisposed subjects, though there are hardly any reports in the literature. Seizures are one of the supportive criteria but these are overestimated. Nonseizure events like twitching/jerking/head turning/trembling/bruxism/staring/laughing/ pupillary dilatation/breath holding and hyperventilation are usually confused with seizures(2). Role of video EEG is very important for diagnosis and to avoid the overprescription and adverse …show more content…
The parents noticed gradual regression of her speech and useful hand movements. The child also developed sterotypic midline hands and lip movements simulating air blowing.
Speech and purposeful hadn movements were completely lost in 6-8 months. Meaningful play regressed over one-year. Hearing, vision and sleep remained normal. There was no history of seizures prior and during the course of illness. She could still walk but was unable to run/climb stairs. She also has unprovoked bouts of laughter. During examination she spontaneously hyperventilated twice for about
30-40 seconds and had reflex generalized flexor myoclonus to sudden loud sound. Her eye contact and response to pain was very poor.
Spontaneous walking and picking things was normal. She did not pay any attention to toys in the playroom and did not obey any command.
Tone and deep tendon reflexes were normal.
Fingers in both hands were small and tapering.
Rest of the examination, including fundi was normal. EEG/ECG and CT scan did not reveal any abnormality. Chromosomal analysis was not carried out.
This child had characteristics features of
Rett syndrome including the age at onset, loss of communication and acquired hand