Functional classifications for cerebral palsy: correlations between the gross motor function classification system (GMFCS), the manual ability classification system (MACS) and the communication function classification system (CFCS).

This study aimed to investigate a possible correlation between the gross motor function classification system-expanded and revised (GMFCS-E&R), the manual abilities classification system (MACS) and the communication function classification system (CFCS) functional levels in children with cerebral palsy (CP) by CP subtype. It was also geared to verify whether there is a correlation between these classification systems and intellectual functioning (IF) and parental socio-economic status (SES). A total of 87 children (47 males and 40 females, age range 4-18 years, mean age 8.9±4.2) were included in the study. A strong correlation was found between the three classifications: Level V of the GMFCS-E&R corresponds to Level V of the MACS (rs=0.67, p=0.001); the same relationship was found for the CFCS and the MACS (rs=0.73, p<0.001) and for the GMFCS-E&R and the CFCS (rs=0.61, p=0.001). The correlations between the IQ and the global functional disability profile were strong or moderate (GMFCS and IQ: rs=0.66, p=0.001; MACS and IQ: rs=0.58, p=0.001; CFCS and MACS: rs=0.65, p=0.001). The Kruskal-Wallis test was used to determine if there were differences between the GMFCS-E&R, the CFCS and the MACS by CP type. CP types showed different scores for the IQ level (Chi-square=8.59, df=2, p=0.014), the GMFCS-E&R (Chi-square=36.46, df=2, p<0.001), the CFCS (Chi-square=12.87, df=2, p=0.002), and the MACS Level (Chi-square=13.96, df=2, p<0.001) but no significant differences emerged for the SES (Chi-square=1.19, df=2, p=0.554). This study shows how the three functional classifications (GMFCS-E&R, CFCS and MACS) complement each other to provide a better description of the functional profile of CP. The systematic evaluation of the IQ can provide useful information about a possible future outcome for every functional level. The SES does not appear to affect functional profiles.

Hypnic headache in children.

BACKGROUND: Hypnic headache (HH) is a rare, short-lasting headache occurring exclusively during sleep and usually affecting the elderly population. According to the ICHD-II diagnostic criteria, HH is characterized exclusively by sleep-related dull headache attacks, either lateralized or bilateral, a recurrence of >15 times per month and a persistence of pain >15 minutes after waking. No autonomic symptoms and no more than nausea, photophobia, or phonophobia are present. CASES: We report three children between 7 and 11 years old with HH features. The characteristics of our patient's headache, with particular reference to the nocturnal pattern, the short duration and the absence of autonomic symptoms, lead us to consider the diagnosis of HH. CONCLUSIONS: Considering the very few cases of HH reported in paediatric age, our cases may expand the clinical spectrum of this disorder, suggesting a possible revision of the diagnostic criteria, with particular regard to the developmental age.

MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations.

BACKGROUND: Stroke in pediatric age is a rare event with a multifactorial genesis which could involve genetic factors as methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism. At the same time, twin gestation with co-twin demise is an important potential risk factor for premature brain damage. PATIENTS AND METHODS: We describe two children presenting with presumed cerebral stroke born from two MC twin pregnancies in which the other co-twin had died in utero associated to maternal and fetal homozygosity for MTHFR C677T and MTHFR A1298C, respectively. Brain damage was diagnosed immediately before the delivery. CONCLUSION: Our observations underline the necessity to make a thrombophilia workup in women before or during pregnancy and, above all, in twin pregnancy. Data of literature are not clear about what kind of genetic polymorphism is prominent in the genesis of cerebral stroke (factor V leiden, MTHFR, activated protein C resistance, factor II G20210A). A multifactorial genesis for severe fetal and perinatal cerebral vascular alterations has been supposed; for this reason an early folate supplementation both to mother and infant could reduce the risk of brain damage due to fetal/perinatal stroke and eventual recurrence of thrombotic events.

Preterm birth and neurodevelopmental outcome: a review.

BACKGROUND: The incidence of preterm delivery and the survival rate of preterm newborns are rising, due to the increased use of assisted reproductive technology associated with multiple gestations and improved technology in obstetrics and neonatology, which allow saving preterm infants at earlier gestational ages. As a consequence, the risk of developmental disabilities in preterm children is high, and clinical pictures need to be fully defined. METHODS: Narrative review including articles regarding neurodevelopmental disorders published in the international medical literature and reported in PubMed between the years 2000 and January 2010. RESULTS: Although survival rates of extremely low birth weight infants (ELBW) significantly increased during the last decade, the substantial stability of disability trends in this population was disappointing. Late-preterm infants, who account for about 75% of all preterm births and had not been considered at risk for adverse long-term neurodevelopmental outcomes in the past, are now reconsidered as more likely to develop such events, though their risk remains lower than in ELBW. CONCLUSIONS: The findings of the studies discussed in our article support the importance of early diagnosis in order to make decision about appropriate treatment of preterm infants.

Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspects.

Pallister-Killian syndrome is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome (12p). Although the clinical manifestations of Pallister-Killian syndrome are variable, the most common anomalies include craniofacial dysmorphisms, limb deformities, progressive psychomotor development delay, severe hypotonia, and epilepsy. Standard karyotype is nearly always normal, but the isochromosome (12p) is present in a high percentage of skin fibroblasts. In this article, we report the case of 2 boys with Pallister-Killian syndrome having late-onset, drug-resistant epileptic spasms. Seizures have been reported in 40% of patients with Pallister-Killian syndrome but are poorly described. Epileptic spasms are not unusual in patients with brain malformations, chromosomal aberrations, and genetic syndromes, but epileptic spasms could be easily mistaken for behavioral manifestations. A better electroclinical characterization of epileptic seizures in Pallister-Killian syndrome using appropriate polygraphic tests (video-electroencephalography, electromyography) may lead to an early diagnosis and specific treatment for this form of epileptic spasms caused by this rare syndrome.

Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation.

Findings suggest that there is no association between MTHFR C677T and MTHFR A1298C and mental retardation in the studied Italian population and that these polymorphisms are not contributing to the aetiology of mental retardation.