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L’évaluation neurologique du nouveau-né et du très jeune enfant est fondamentale pour le diagnostic et le pronostic précoces, le monitorage intensif et la prise en charge rééducative. Le clinicien dispose d’un large éventail de protocoles, dont la plupart sont basés sur le tonus musculaire et les réactions réflexes, mais le comportement actif et spontané du bébé est de plus en plus pris en compte, à partir des travaux initiaux de Prechtl, Brazelton et autres auteurs des années 1970–1980. La méthode d’évaluation des mouvements généraux (GM) selon Prechtl est un protocole standardisé d’enregistrement, observation et jugement qualitatif de l’activité motrice spontanée de l’enfant, qui peut être appliqué au prématuré comme au nouveau-né à terme, à partir de la période avant-terme jusqu’à 24 semaines après le terme. La capacité prédictive de la méthode pour les troubles majeurs du développement moteur, en particulier la paralysie cérébrale, est très élevée, avec des valeurs de spécificité et sensibilité au-dessus de 90 %. Mais les GM sont prédictifs aussi pour les troubles neurologiques mineurs, cognitifs et relationnels. Récemment, des relations étroites et spécifiques ont été démontrées entre la qualité des GM et les anomalies structurelles retrouvées en imagerie cérébrale néonatale. L’importance des GM pour la pratique clinique ne s’arrête pas à l’évaluation : il s’agit d’une approche qui nous enseigne à observer sans trop manipuler, respecter les compétences fonctionnelles spécifiques pour l’âge, prêter attention à l’activité spontanée comme répertoire potentiel pour sélectionner, renforcer et adapter les schémas les plus efficaces.

Aim:To identify perinatal factors associated with sub-optimal neuromotor outcome in infants without evident central nervous system lesions (intraventricular hemorrhage/periventricular leukomalacia), with gestational age ≤30 (group I) and of 31–32 weeks (group II). Patients and methods:A total of 102 premature infants admitted to the Neonatal Intensive Care Unit of Pisa, at 26–32 weeks of gestation, were studied. Data about perinatal factors and TSH values at 3–4 days of life were collected. The assessment of neuromotor development was performed at 18 months of corrected age, using the locomotor subscale of the Griffiths Scales of Mental Development. Results:Risk factors supposed to be predictive of sub-optimal neuromotor outcome (odds ratio >1) were at ≤30 weeks: male sex, small for gestational age, patent duct arterious, respiratory distress syndrome, and at 31–32 weeks: Apgar at 5 min <7, respiratory distress syndrome, patent duct arterious and birth weight <1500 g. A strong correlation was also found between TSH screening values >4, 3 mU/I and sub-optimal neuromotor outcome in both groups. Conclusions:Several perinatal factors, acting on an immature and more vulnerable nervous system, such as the pre-term one, different for different gestational ages, are associated with a sub-optimal neuromotor outcome. Higher, but within the normal range, TSH values at screening seem to be a strong risk factor for neuromotor outcome in preterm infants without intraventricular hemorrhage or periventricular leukomalacia.

The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in the 22q13.3 region may lead to a clinically recognizable syndrome named “22q13.3 deletion syndrome.” We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders. To check if the critical region responsible for “22q13.3 deletion syndrome” was absent in this ring, a fluorescent in situ hybridization (FISH) analysis using a probe corresponding to the ARSA locus was performed. In our patient, only one ARSA signal could be detected, indicating that the deletion encompassed the critical 22q13.3 region. A more detailed analysis of the deletion extent then was performed using a panel of fluorescent probes located within 22q13. These experiments allowed the identification of the breakpoint between CTA‐299D3 and RP5‐925J7 probe, located in 22q13.32. Deletion extent could be estimated to be about 2.5 Mb, and this larger deletion may explain the severity of clinical features observed in our patient. © 2004 Wiley‐Liss, Inc.

The aim of this study was to examine the correlation between EEG, visual, and brain MRI findings in 19 term infants with perinatal brain lesions. All 19 had their visual acuity and visual fields assessed and had an EEG and a brain MRI performed at 1 year of age. Four of the five infants with normal optic radiations and occipital cortices on MRI had normal vision. Involvement of optic radiations and occipital cortices was only associated with visual abnormalities in eight of 14 infants. The correlation between visual abnormalities and EEG findings was stronger. All infants with a completely normal EEG from the posterior regions had normal vision and all those with an EEG non-reactive to eye closure had visual abnormalities, irrespective of MRI data. A reactive EEG with other abnormal features (such as spikes, rapid or slow activities) was accompanied by abnormal vision in five of eight participants. Results suggest that there is a better correlation between visual function and EEG activity than between visual function and involvement of the classical visual areas of the occipital cortex and optic radiations on brain MRI at 1 year of age.

The aim of this study was to examine the correlation between EEG, visual, and brain MRI findings in 19 term infants with perinatal brain lesions. All 19 had their visual acuity and visual fields assessed and had an EEG and a brain MRI performed at 1 year of age. Four of the five infants with normal optic radiations and occipital cortices on MRI had normal vision. Involvement of optic radiations and occipital cortices was only associated with visual abnormalities in eight of 14 infants. The correlation between visual abnormalities and EEG findings was stronger. All infants with a completely normal EEG from the posterior regions had normal vision and all those with an EEG non-reactive to eye closure had visual abnormalities, irrespective of MRI data. A reactive EEG with other abnormal features (such as spikes, rapid or slow activities) was accompanied by abnormal vision in five of eight participants. Results suggest that there is a better correlation between visual function and EEG activity than between visual function and involvement of the classical visual areas of the occipital cortex and optic radiations on brain MRI at 1 year of age.

The aim of this study was to examine the correlation between EEG, visual, and brain MRI findings in 19 term infants with perinatal brain lesions. All 19 had their visual acuity and visual fields assessed and had an EEG and a brain MRI performed at 1 year of age. Four of the five infants with normal optic radiations and occipital cortices on MRI had normal vision. Involvement of optic radiations and occipital cortices was only associated with visual abnormalities in eight of 14 infants. The correlation between visual abnormalities and EEG findings was stronger. All infants with a completely normal EEG from the posterior regions had normal vision and all those with an EEG non‐reactive to eye closure had visual abnormalities, irrespective of MRI data. A reactive EEG with other abnormal features (such as spikes, rapid or slow activities) was accompanied by abnormal vision in five of eight participants. Results suggest that there is a better correlation between visual function and EEG activity than between visual function and involvement of the classical visual areas of the occipital cortex and optic radiations on brain MRI at 1 year of age.

Although some studies have reported subtle language deficits following early focal brain lesions (EFBL), most studies find no evidence for differential language outcomes as a function of lesion side or lesion type in children with congenital injuries to one side of the brain. However, recent prospective studies of the first stages of language development in English-speaking children with EFBL have reported greater delays in expressive vocabulary in children with left-hemisphere damage, particularly if the lesion involves left temporal cortex. In the present study, first stages in the development of word production were studied in 43 Italian children with congenital EFBL, between 13 and 46 months of age. As a group, the EFBL children were markedly delayed in expressive vocabulary. Among children who were in the first stage of language learning, delays were significantly greater with left-hemisphere injury. However, this left-right difference was not evident in children who had moved on to the next stage of language development, producing at least some sentences. Discussion centers on the role of developmental plasticity in determining the outcomes of early focal brain injury, suggesting that recovery from initial delays may take place in the early stages of language development, at least for some children.

Objectives: Selected EEG features were evaluated in 21 constantly discontinuous tracings recorded on the same number of full-term neonates with hypoxic-ischaemic encephalopathy.

AIMS: To determine if there is any association between the findings of visual assessment performed at the age of 5 months and neurodevelopmental outcome at the age of 2 years in children who have sustained hypoxic-ischaemic insults. METHODS: Twenty nine term infants with hypoxic-ischaemic encephalopathy and/or brain lesions on neonatal magnetic resonance imaging (MRI) were prospectively evaluated. At 5 months of age all the infants had their visual function assessed using the Atkinson Battery of Child Development for Examining Functional Vision, which includes the assessments of optokinetic nystagmus (OKN), acuity, visual fields, fixation shift and phase and orientation reversal visual evoked potentials. At 2 years of age the children had a structured neurological evaluation and a Griffiths developmental assessment. RESULTS: There was good correlation between the extent of the early detected visual impairment and both neuromotor and global development. Children with more than three out of five abnormal visual tests at 5 months of age tended to have abnormal neurological examination results and abnormal developmental quotients. Children with three or fewer abnormalities tended to have developmental quotients in the normal range; the level of their performance, however, was still related to the number of visual tests passed. CONCLUSIONS: Individual visual tests can provide important prognostic information. While abnormal OKN and acuity were always associated with abnormal outcome, normal results on visual evoked potentials and fixation shift tended to be associated with normal outcome.

Hyperekplexia (startle disease) is an unusual, familial, neurological disorder characterized by abnormally enhanced startle response, followed in most cases by momentary generalized muscular stiffness. These attacks may cause the patients to fall rigidly, while remaining fully conscious. Startle symptomatology has generally an onset in infancy and is often accompanied, during the first years of life, by rigidity, sleep myoclonus, motor delay, regurgitation and apneic spells, which may cause sudden death. Stiff-baby syndrome is a familial disorder characterized by marked rigidity, with neonatal onset and gradual reduction during infancy, regurgitations, motor delay and attacks of stiffness. We report 4 new cases of hyperekplexia from two different families and another infant with stiff-baby syndrome discussing clinical, electrophysiological and genetic aspects of both neurological disorders in relation to other reported cases. We suggest a continuum between these familial syndromes, which are often misinterpreted as epilepsy or other disorders.

Abstract: Visual information processing for faces were tested by means of the Fagan test of infant intelligence (FTII) in six infants of approximately 12 months of age affected by congenital unilateral brain lesions. Magnetic resonance imaging (MRI) was used to determine the side and size of the lesions. In addition to the FTII, all infants were submitted to a psychometric evaluation using the Griffiths scales. Visual acuity, visual field, and ocular motility were also assessed. Three infants showed damage in the left hemisphere and three in the right. The severity of the lesions, as revealed by MRI scan, was similar in the two groups. All infants except one had normal or borderline cognitive scores on the Griffiths scales. Conversely, four infants showed abnormal results on the FTII, which were not associated with the severity of the lesions, psychometric scores, or the presence of visual deficits. A preference for stimuli presented on the left side of the screen was found, independent of the side of the lesions. This effect was stronger for novel stimuli. The results of this study confirm the importance of early assessment of neuropsychological functions in infants with focal brain lesions.

A Monte Carlo programme for studying electromagnetic showers is described. The main difference with previous programmes is its simplicity which is obtained by using in certain parts experimental data. The distribution of track length in a small-dimension absorber of lead glass is calculated for electrons of energy between 50 and 500 MeV. The output of a Čerenkov counter is then studied theoretically and the results are compared with experiments. Si descrive un programma di Montecarlo per la simulazione di sciami elettromagnetici. La caratteristica principale del programma consiste nella sua semplicità, che è ottenuta facendo uso in certe parti di dati sperimentali. Si calcola poi la distribuzione della lunghezza di traccia in vetro al piombo per elettroni di energia compresa tra 50 e 500 MeV. Si studia infine teoricamente la risposta di un contatore Čerenkov e si confrontano i risultati con i dati sperimentali. Описывается программа Монте-Карло для иэучения злектромагнитных ливней. Главное отличие от предыдуших программ состоит в ее простоте, которая достигается благодаря испольэованию в некоторых частях зкспериментальных данных. Вычисляется распределение длины треков в поглотителях малых раэмеров иэ свинцового стекла для злектронов с знергиями от 50 до 500 МзВ. Затем теоретически иэучается выход черенковского счетчика, и полученные реэультаты сравниваются с зкспериментом.

The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations. In vivo 1H-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.

AimsTo determine impact of austerity on families with disabled children across Europe.MethodsCross-sectional electronic surveys in 25 languages disseminated via professional and family networks in 32 European countries December 2016 – February 2017.Country comparison groups: United Kingdom (UK); countries where>50% professionals and families reported austerity cuts; remaining countries.United Nations International Children’s Emergency Fund (UNICEF) indicators of severe poverty in rich and middle-income countries were integrated into the families’ questionnaire: those reporting ≥four poverty indicators met severe poverty criteria.Level of dependency of disabled child accounted for in analysis, using IBM SPSS Statistics, v23.ResultsResponses received: 959 professionals (32 countries); 731 families (23 countries).Family respondents: 29% (215/731) UK; 28% (275/731) other countries reporting austerity cuts; 33% (241/731) remaining countries.45% (332/731) met UNICEF severe poverty criteria.More UK families reported worsening quality of services compared to three years ago (112/215; 52.1%), than families not in poverty with completely dependent disabled children from remaining countries (14/69; 20%) (p<0.001, χ2=57.1).More UK families in poverty with completely dependent disabled children reported access more difficult than three years ago than any other respondent groups to: therapies (85%, 33/39); support in education (67%, 26/39); social care support (85%, 33/39); welfare support and benefits (79%, 31/39). Significantly fewer respondents from remaining countries reported more difficult access to services (p<0.001 for all).Families and professionals from remaining countries generally perceived health, education and social care needs were better addressed than 10 years ago, whilst most of all other comparison groups reported needs in all areas to be less well met (p<0.001). UK families in severe poverty with completely dependent disabled children reported the greatest decline in how health, education and social care needs were met, compared to 10 years ago.ConclusionProfessional and family respondents across Europe experiencing austerity cuts reported a significant decline in quality of services received in the last three years and in how well health, educational and social care needs had been met over the last decade, compared to respondents from countries experiencing no austerity measures.UK responses were significantly worse than from other countries. UK families with the most dependent disabled children living in poverty generally reported the worst experiences overall.

AIM: To evaluate the correlation between visual function and neurodevelopmental outcome in children with periventricular leucomalacia at 1 and 3 years. METHOD: Visual acuity, visual field, ocular motility, and optokinetic nystagmus were tested in 29 infants with periventricular leucomalacia by brain magnetic resonance imaging. All infants also had a structured neurological examination and a Griffiths developmental assessment. RESULTS: 21 of the infants showed at least one abnormality of visual function. The degree of visual impairment-that is, the number of visual tests showing abnormal results-correlated well with the results on developmental assessment at both ages. CONCLUSION: Multivariate analysis showed that visual impairment was the most important variable in determining the neurodevelopmental scores of these infants, more than their motor disability and the extent of their lesions on magnetic resonance imaging.