ABSTRACT
The Cerebral Palsy Registry in eastern Denmark has been collecting cases using a uniform data sampling procedure since birth year 1979. Children are included by two child neurologists and an obstetrician. Information on pregnancy, birth, neonatal period, impairments and demographic data are registered. The total cerebral palsy birth prevalence has been significantly decreasing since the birth period 1983-1986 with 3.0 per 1000 live births until the period 1995-1998 with 2.1 per 1000 live births. The overall decrease was seen in preterm infants (<31 weeks) as well as in term infants and despite a simultaneous fall in perinatal and early neonatal mortality in the preterm group. Analysing the subtypes of CP we found a significant increase in the numbers as well as the rate of unilateral CP with a simultaneous fall in the numbers as well as the rate of bilateral CP. The explanation of this rise is not obvious. A change from bilateral periventricular lesions to unilateral is a possibility, but no major change in the neonatal handling could be documented. Regarding associated impairments, developmental delay/learning disabilities as well as motor function assessed by ability to walk (unassisted/assisted), both have changed toward higher percentage of children with unassisted walking and in need of special education.
Subject(s)
Cerebral Palsy/epidemiology , Congenital Abnormalities/epidemiology , Brain/physiopathology , Cerebral Palsy/classification , Cerebral Palsy/physiopathology , Child, Preschool , Congenital Abnormalities/physiopathology , Denmark/epidemiology , Female , Functional Laterality/physiology , Gestational Age , Humans , Infant , Infant Mortality , Infant, Newborn , Infant, Premature, Diseases/epidemiology , Male , Pregnancy , Pregnancy Complications/epidemiology , Prevalence , Registries , Risk Factors , Severity of Illness Index , Stroke/epidemiologySubject(s)
Hearing Loss/diagnosis , Hearing Tests/methods , Sound Localization , Attention , False Negative Reactions , False Positive Reactions , Follow-Up Studies , Hearing Tests/standards , Humans , Infant , Infant, Newborn , Mass Screening/methods , Neonatal Screening/methods , Parents , Surveys and QuestionnairesABSTRACT
We present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome. The hypertrichosis was not congenital and it was mainly distributed on the extremities and forehead. In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to SURF1 mutations. Since most patients had onset of hypertrichosis before the diagnosis of Leigh syndrome was made, we suggest that clinicians consider Leigh syndrome in patients with, for example, psychomotor retardation or other unspecific symptoms in combination with hypertrichosis.