The aims of the present study were: to examine the quality of life (QOL) of parents of children with cerebral palsy (CP) and to establish the possible effect of behaviour problems on their QOL. ...One-hundred children with CP, aged between 4 and 10 years, and both their parents were included in the study. Both parents completed the WHOQOL-BREF, to assess their QOL. A sample of 60 parents of healthy children was used as control group. The primary caregiver also completed the CHILD BEHAVIOUR CHECKLIST (CBCL). Parents of children with CP showed lower scores on physical and psychological domains than the control group on QOL. In the psychological domain the mothers of children with hemiplegia had the lowest scores. The mothers reported lower scores than the fathers for the physical domain in the group of children with diplegia and quadriplegia and for the psychological domain in the group of children with hemiplegia. Children with hemiplegia showed externalizing scores at CBCL higher than the other groups, that could explain the poorer QOL scores of their mothers. In conclusions our results provide useful information on the QOL in families with different forms of CP, useful in planning interventions for the family of children with CP.
to investigate visual function pre- and post surgery in children with single-suture non-syndromic craniosynostosis
Twenty-nine infants (12 with sagittal synostosis, 10 with trigonocephaly and 7 with ...anterior plagiocephaly) were longitudinally evaluated using a battery of tests assessing various aspects of visual function, including ocular behaviour, acuity, visual fields and fixation shift. All infants were assessed before surgery and 2, 6 and 12 months after surgery.
Before surgery only 16% of infants had completely normal visual function, while on the assessment performed 12 months after surgery, the number with normal results on all the tests increased to 65%. The only abnormalities found 12 months after surgical correction were mainly found on abnormal oculomotor behaviour in infants with plagiocephaly.
Abnormalities of visual function were not frequent in infants with non-syndromic craniosynostosis who underwent surgical correction. Approximately half of the patients had some visual abnormalities before surgery, which subsequently improved, showing a delayed visual maturation rather than persistent abnormalities.
Fibroblast growth factors (FGFs) are important signaling molecules which act during early vertebrate central nervous system development.
FGF17
, together with FGF8, is a key factor in the patterning ...of the mid-hindbrain region with a complex picture of spatiotemporal gene expression during the various stages of cerebellar development. Disruption or reduced expression of
fgf17
in mice has been associated with cerebellar vermis abnormalities. We have identified a
de novo
2.3-Mb deletion of chromosome 8p21.2-p21.3 in a girl with severe growth retardation, seizures, and classical Dandy–Walker malformation. Analysis of gene expression in blood lymphocytes and skin fibroblasts revealed markedly reduced levels of
FGF17
, which is located 1 Mb from the proximal deletion breakpoint. This is the first report of a human cerebellar malformation associated with transcriptional downregulation of the
FGF17
gene.
The neurological examination of the newborn baby Mercuri, Eugenio; Ricci, Daniela; Pane, Marika ...
Early human development,
12/2005, Letnik:
81, Številka:
12
Journal Article, Conference Proceeding
Recenzirano
This paper provides an overview of the value of a structured neonatal neurological examination that may be performed in different settings, from routine examination to research settings.
We will ...report how a structured neurological examination can help to identify infants with central and peripheral nervous system involvement.
We also describe a short but structured proforma to be used for the routine examination of full-term infants.
We will finally describe a quantitative assessment to be used in research settings.
Abstract Congenital muscular dystrophies (CMDs) are defined by signs of muscle weakness in the first 6 months of life with myopathic changes in muscle biopsy. The progress in the last decade has ...helped to make molecular and genetic diagnoses in the majority of patients fulfilling these criteria. In a number of patients a definite diagnosis cannot be reached and these individuals are often grouped together as “merosin positive” congenital muscular dystrophy. In the last 5 years, 25 patients referred for assessment as possible congenital muscular dystrophy have been found to have alternative diagnoses. This paper aims to highlight these conditions as the common differentials or more difficult to diagnoses to consider in patients presenting as CMD.
Abstract The aim of this non-randomized pilot study was to assess whether serial casting can be used in Duchenne muscular dystrophy (DMD) patients to reduce tendo-achilles (TA) contractures and to ...allow the fitting of the knee–ankle–foot orthoses (KAFOs) at the end of the functional walking. TA range and age at loss of standing with KAFOs were prospectively assessed in nine DMD patients who underwent serial casting prior to rehabilitation into KAFOs and compared to a group of 20 DMD patients who had TA (group II) or TA and iliotibial band (ITB) surgical resection (group III). TA range after casting was reduced at least to plantargrade/neutral in 8 of the 9 patients studied although patients who had surgery had better correction of TA angles. The mean interval between rehabilitation and loss of standing ability with KAFOs was only minimally different among the three groups 1.8 years (9 months–2.8 years) in group I, 2 years (1 month–4.3 years) in group II, 1.9 years (6 months–4.7 years) in group III. The results of this pilot study suggest that serial casting of the TAs can be considered in DMD patients with moderate TA contractures and in whom there are no significant iliotibial band (ITB) tightness, although this intervention is probably not as effective as surgery in maintaining long-term TA range. This procedure may therefore be considered both in patients with medical contraindication to surgery, and also in patients or families who are not prepared to cope with the stress and discomfort of TA surgery.
Abstract Background: The assessment of visual function is part of all the neonatal neurological examination but it is often limited to the evaluation of ocular movements and the ability to fix and ...follow a target. Aim of the study: To develop a simple battery of test items assessing different aspects of visual function that could be used as early as 48 h after birth. Study design and subjects: The final battery, which has been used in 50 full term low risk neonates, includes 9 items assessing ocular motility, both spontaneous and with focus on a visual target, fixation and tracking (horizontal, vertical and in an arc), the ability to discriminate stripes of different spatial frequency, and attention at distance. Results: The battery proved easy to perform and did not require long training. The testing did not require a specific setting and was easy to use even for infants in incubators. The equipment is small and cleanable. Conclusion: Our paper suggests that a simple battery, which can be performed in 5/10 min, can be easily applied and provides useful information on various aspects of early neonatal visual function.
Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy Citation: Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, et al. ...(2013) Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.
Objectives The aim was to establish the range of neurologic findings in preterm infants reaching term age, their relation to gestational age at birth, and the possible differences with healthy term ...newborns tested during the first days of life. Study design The Dubowitz neonatal neurologic examination was performed at term age in 157 low-risk preterm infants born between 25 and 34 weeks' gestation who had cranial ultrasonograms that were normal or showed minor abnormalities. Infants were subdivided in 3 groups according to their gestational age at birth. Results Within the preterm cohort, the range of scores for the 3 gestational age subgroups was different from each other for 21 of the 34 items, although the median scores were different only in 10 of the 34 items. The range of scores and their median in preterm infants however was wider than that found in term infants. Preterm infants examined at term were also more hyperexcitable and tended to have less flexor tone in the limbs and less extensor tone in the neck in the sitting posture. Conclusions The distribution of scores provides useful guidelines when a preterm infant is examined at term.
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