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Investigation
of Rett syndrome (what medical experts look for in the patient)
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Developmental
landmarks: Head circumference and
growth progress in general
Nutritional markers: weight and height.
Musculo-skeletal status: Muscle tone, supine posture
for scoliosis and joint contractures.
Movements: gross motor function, involuntary movements
(hand stereotype, tremor, dystonia, chorea and athetosis), and
voluntary hand use.
Mental and cortical functions: intellectual disability,
speech and epilepsy.
Brainstem and autonomic functions: disturbed awake breathing
rhythm, poor peripheral circulation at extremities (blue
or cold feet), mood disturbance and sleep disturbance and oro-motor
difficulty. |
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Julu,
P.O.O (2001). The central autonomic disturbance in Rett syndrome.
In: Kerr, A. and Witt Engerstrom, I (eds) Rett Disorder and the
Developing Brain. Oxford University Press, Oxford, pp132-181. |
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