PubMed Health⌕ Search

Biomedical subjects

Giovanni Cioni

Publications and source records attributed to Giovanni Cioni.

17 recordsLinked to original sources
PubMed2006

Spontaneous awakenings in preterm and term infants assessed throughout 24-h video-recordings.

The study aimed to evaluate the development of awakenings during preterm and term age in 12 low-risk infants observed between 33 and 40 weeks of post-conceptional age. Waking was been detected through the analysis of body motility. Gross generalized body movements with prolonged startles, marked stretching and writhing was considered as waking, whereas vigorous, forceful abrupt body movements with high frequency tremor sometimes superimposed upon movements were considered as corresponding to crying. Total number of awakenings in the 24 h does not show significant changes with age, whereas the mean duration increases significantly, which is accounted for mainly by those awakenings starting with crying, in particular, during the day. These data suggest a developmental gap between the ability to sustain the waking state, which already starts to increase before term age, and the ability to maintain prolonged sleep episodes, which has been shown to develop later. Furthermore, the developmental difference between awakenings starting with crying and awakenings starting with wakefulness suggests that two kinds of awakenings might be modulated by different factors.

Child Development↗
PubMed2006

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.

Amidinotransferases↗
PubMed2005

Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function.

The aim of this study was to evaluate cognitive development at the onset of West syndrome (WS) with regard to electroencephalogram (EEG) patterns and visual function. Twenty-five patients (14 males, 11 females) at the onset of spasms (T0) in WS and 2 months later (T1) underwent a full clinical evaluation, including neuroimaging, cognitive assessment, video-EEG, and visual function. Mean age of the patients at spasm onset was 5.9 months (SD 2.5; range 2 to 13mo). Cognitive development, assessed with Griffiths Mental Development Scales (GMDS), was generally impaired at T0 and was significantly related to visual function (p<0.001) at both T0 and T1. In general, there was a specific major impairment in the eye-hand coordination scale of the GMDS which tended to disappear after 2 months in less severe cases. At the onset of spasms, sleep EEG organization seemed to be better related to cognitive abilities than awake hypsarrhythmia. These results support a close link between visual function and cognitive competence in WS and provide additional information to improve the understanding of possible mechanisms underlying cognitive impairment.

Child Development↗
PubMed2004

Neurological examination in healthy term infants aged 3-10 weeks.

OBJECTIVES: The neurodevelopmental progress of newborn term infants is checked routinely at around 6 weeks of postnatal age. The maturation of neurological signs in this age range however has not been systematically studied and normative data are not available. The aim of this study was to document any changes in posture, tone, reflexes, behaviour and movements in low-risk full-term infants between 3 and 10 weeks of postnatal age. STUDY DESIGN: We performed a structured neurological examination previously standardised in full-term newborns in the first 48 h after birth. In the current study, a total of 76 examinations were performed between 3 and 10 weeks of age in low-risk full-term infants. RESULTS: The results of the examinations were divided according to postnatal age. In most items, the scores changed with time, with a definite shift in their distribution occurring around 6 weeks. At this age, a reduction in flexor tone of the limbs was observed, together with an increase in active neck tone. Visual orientation in contrast had already improved by 3 weeks when all infants were able to follow a target in a full circle compared to newborns that are often only able to follow a target in an arc. CONCLUSIONS: Our results suggest that 6 weeks post-term birth is an important milestone for changes in neurological signs, particularly those related to muscle tone and posture, probably reflecting maturation of the nervous system. These findings provide important guidelines for the interpretation of the neurological examination performed at this age.

Child Development↗
PubMed2004

Visual function in infants with West syndrome: correlation with EEG patterns.

PURPOSE: Several studies have reported behavioral and electrophysiological evidence of visual impairment during the active stage of West syndrome. The underlying mechanisms are, however, poorly understood, and little has been reported about the correlation between visual impairment, EEG patterns, and brain lesions. The aim of the study was to assess visual function at the onset of spasm and 2 months thereafter and relate visual findings to brain lesions and EEG features. METHODS: Twenty-five infants with West syndrome were enrolled and studied with (a) a full clinical assessment including a battery of tests specifically designed to assess visual function, (b) a video-polygraphic study, and (c) brain magnetic resonance imaging (MRI). Besides brain neuroimaging and EEG comparison with visual function, an intra-EEG analysis was performed to investigate the possible relation of EEG patterns to fluctuating visual behavior (fixation and following). RESULTS: Twenty-two children had at least one abnormal result on one or more of the tests assessing visual function at T0. Visual impairment at the spasm onset was related to the sleep disorganization rather than to the hypsarrhythmic pattern in awake EEG. After 2 months, both EEG features become significantly linked to visual function. Visual function improved in several cases after 2 months, in parallel with the seizure regression. No relation was found between EEG patterns and fluctuating visual behavior. CONCLUSIONS: The study supplies new evidence of the involvement of visual function in West syndrome. The presence of abnormal visual findings in infants without lesions on brain MRI suggests that visual abnormalities are due not only to brain injury but also to epileptic disorder per se. New insight is also provided into the possible mechanisms underlying clinical and EEG abnormalities.

Brain↗
PubMed2004

Neonatal cerebral infarction and neuromotor outcome at school age.

OBJECTIVE: The aim of this study was to assess neuromotor function at school age in children who had cerebral infarction on neonatal magnetic resonance imaging (MRI). DESIGN: Twenty-two children with evidence of cerebral infarction on neonatal brain MRI (18 with arterial infarction and 4 with border-zone lesions) were assessed at school age with a structured neurologic examination and the Movement Assessment Battery for Children, a battery of tests designed to assess motor function. RESULTS: Of the 22 children, 6 (30%) had hemiplegia and a further 7 (30%) showed some neuromotor abnormality such as asymmetry on the neurologic examination (n = 4) or poor scores on the neuromotor test without any sign of asymmetry (n = 3). The remaining 9 children had a normal motor outcome. Hemiplegia was found only in children who had concomitant involvement of hemisphere, internal capsule, and basal ganglia on brain MRI. Children with involvement of the internal capsule, associated either with basal ganglia or hemispheric lesions, did not show hemiplegia but still had motor difficulties. CONCLUSIONS: Our results suggest that although hemiplegia occurs in a relatively small proportion of children with neonatal cerebral infarction, other signs of neuromotor impairment can be present, and these become more obvious at school age when a more specific assessment can be performed. These results also suggest that the involvement of the internal capsule on neonatal MRI can predict the presence of these abnormalities.

Brain↗
PubMed2003

Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.

BACKGROUND: Pelizaeus-Merzbacher disease (PMD) and a complicated form of familial spastic paraparesis (spastic paraplegia 2 [SPG2]) are X-linked development disorders of myelin formation caused by a mutation in the proteolipid protein (PLP) gene. Spastic paraplegia 2 is allelic to PMD. The wide range of PLP mutations results in a corresponding large spectrum of clinical severity in PMD, with a continuum of signs and symptoms to SPG2. OBJECTIVE: To report the results of genetic, neurophysiologic, and neuroimaging investigations performed in a child affected by a mild ataxic and spastic form of PLP-related disorder and in his relatives. RESULTS: A missense mutation in exon 6 of the PLP gene (Q233P) was found in the proband and in the female obligate carriers. In the proband, evoked potentials were altered and remained unchanged during the 7 years of follow-up. Magnetic resonance imaging of the child demonstrated patchy hyperintensities of the paraventricular white matter, with microcystic components. These latter findings, along with pallidal calcium deposition, were also present in 2 females heterozygous for PLP mutation. CONCLUSION: The unusual genetic, magnetic resonance imaging, and clinical findings of this family confirm the wide variability of PLP-related disorders.

Adult↗
PubMed2002

Dorsal and ventral stream sensitivity in normal development and hemiplegia.

Form and motion coherence thresholds can provide comparable measures of global visual processing in the ventral and dorsal streams respectively. Normal development of thresholds was tested in 360 normally developing children aged 4-11 and in normal adults. The two tasks showed similar developmental trends, with some greater variability and a slight delay in motion coherence compared to form coherence performance, in reaching adult levels. To examine the proposal of dorsal stream vulnerability related to specific developmental disorders, we compared 24 children with hemiplegic cerebral palsy with the normally developing group. Hemiplegic children performed significantly worse than controls on the motion coherence task for their age, but not on the form coherence task; however, within this group no specific brain area was significantly associated with poor motion compared to form coherence performance. These results suggest that extrastriate mechanisms mediating these thresholds normally develop in parallel, but that the dorsal stream has a greater, general vulnerability to early neurological impairment.

Adult↗
PubMed2002

Cramped synchronized general movements in preterm infants as an early marker for cerebral palsy.

OBJECTIVE: To ascertain whether specific abnormalities (ie, cramped synchronized general movements [GMs]) can predict cerebral palsy and the severity of later motor impairment in preterm infants affected by brain lesions. DESIGN: Traditional neurological examination was performed, and GMs were serially videotaped and blindly observed for 84 preterm infants with ultrasound abnormalities from birth until 56 to 60 weeks' postmenstrual age. The developmental course of GM abnormalities was compared with brain ultrasound findings alone and with findings from neurological examination, in relation to the patient's outcome at age 2 to 3 years. RESULTS: Infants with consistent or predominant (33 cases) cramped synchronized GMs developed cerebral palsy. The earlier cramped synchronized GMs were observed, the worse was the neurological outcome. Transient cramped synchronized character GMs (8 cases) were followed by mild cerebral palsy (fidgety movements were absent) or normal development (fidgety movements were present). Consistently normal GMs (13 cases) and poor repertoire GMs (30 cases) either lead to normal outcomes (84%) or cerebral palsy with mild motor impairment (16%). Observation of GMs was 100% sensitive, and the specificity of the cramped synchronized GMs was 92.5% to 100% throughout the age range, which is much higher than the specificity of neurological examination. CONCLUSIONS: Consistent and predominant cramped synchronized GMs specifically predict cerebral palsy. The earlier this characteristic appears, the worse is the later impairment.

Cerebral Palsy↗
PubMed2002

Timing and type of congenital brain lesion determine different patterns of language lateralization in hemiplegic children.

Cerebral lateralization for language has been assessed by means of the Fused Dichotic Words Test in 26 hemiplegic children (mean age 7 years 2 months) with congenital focal brain damage (ten with left, seven with right and nine with bilateral lesions). The specific aim of the study was to investigate the relation between lesion characteristics (side, size and localization) at high field, multiple plane MRI and the pattern of language lateralization at the dichotic test. Significant side and site effects were found at group level; in children with lesions of the left hemisphere a left ear advantage (LEA) was found, while children with right lesions had the expected right ear advantage (REA). Analysis of individual data, however, revealed that type of lesion, cortical-subcortical or periventricular, occurring at term or preterm age, respectively, may be the primary factor responsible for inter versus intrahemispheric organization of language after congenital brain lesions. Only when the left lesions involved cortical-subcortical regions encroaching the temporal lobe and occurred at term age, was language reorganized in the right hemisphere; when lesions (whether left or right) involved only the periventricular white matter and occurred at preterm age, language was lateralized in the left hemisphere. Our results provide evidence that within 'congenital hemiplegias', strictly defined as hemiplegias whose causal lesion occurs before the end of the neonatal period, different recovery mechanisms are at work, depending on the type of brain lesion (neuropathology) which largely depends on the timing of insult (preterm vs. term period).

Brain↗
PubMed2002

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.

Arginine:glycine amidinotransferase (AGAT, EC 2.1.4.1) deficiency is a recently recognized autosomal recessive inborn error of creatine biosynthesis, characterized by mental retardation and severe language impairment. We extensively investigated a third 5-year-old patient with AGAT deficiency, discovered in the pedigree of the same Italian family as the two index cases. At the age of 2 years he presented with psychomotor and language delay, and autistic-like behavior. Brain MRI was normal, but brain 1H-MRS disclosed brain creatine depletion, which almost completely normalized following creatine monohydrate supplementation. A remarkable clinical improvement paralleled the restoration of brain creatine concentration. AGAT and GAMT (guanidinoacetate:methyltransferase) genes were analyzed in the proband and in 26 relatives, including the two cousins with AGAT deficiency. Sequencing of the proband's AGAT gene disclosed the same homozygous mutation at nt position 9093 converting a tryptophan (TGG) to a stop codon (TAG) at residue 149 (W149X), as already described in the two previously reported cases. The proband's parents and 10 additional subjects of the pedigree were carriers for this mutation. AGAT deficiency was further confirmed by undetectable AGAT activity in the patient's lymphoblasts. Mutation analysis of the GAMT gene revealed a sequence variation in exon 6 (T209M), not in the proband, but in 15 additional subjects from the pedigree. The silent nature of this sequence variation is supported by its homozygosity in one AGAT deficient cousin and in one asymptomatic adult, both with normal GAMT activity.

Amidinotransferases↗
PubMed2002

Leukoencephalopathy with bilateral anterior temporal lobe cysts: a further case of this new entity.

The introduction of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy into clinical practice has permitted advances in the definition and categorization of unknown leukodystrophies in children. We report a new type of leukodystrophy, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, spasticity, severe mental impairment with absence of language, and deafness. Brain MRI showed lobar white-matter signal abnormalities with extensive cysts in the anterior temporal lobe. The results of all metabolic screening tests, including the specific investigations for leukodystrophy, have been negative. Six years of clinical and MRI-magnetic resonance spectroscopy patient follow-up indicate a nonprogressive clinical and magnetic resonance picture. Owing to the striking similarities with the previous eight patients reported, this additional case supports the identification of a new leukodystrophy.

Brain Diseases↗
PubMed2002

Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.

BACKGROUND: Disorders of creatine metabolism arise from genetic alterations of arginine:glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and the creatine transporter. We developed a strategy for the detection of AGAT and GAMT defects by measurement of guanidinoacetate (GAA) and creatine plus creatinine (Cr+Crn) in biological fluids. METHODS: Three patients with AGAT deficiency from the same pedigree and their eight relatives, as well as a patient affected by a GAMT defect and his parents were analyzed by a new HPLC procedure in comparison with 90 controls. The method, which uses precolumn derivatization with benzoin, separation with a reversed-phase column, and fluorescence detection, has shown good precision and sensitivity and requires minimal sample handling. RESULTS: In the three AGAT patients, plasma GAA was 0.01-0.04 micro mol/L [mean (SD) for neurologically normal controls was 1.16 (0.59) micromol/L], Cr+Crn was 15-29 micro mol/L [reference limit in our laboratory, 79 (38) micromol/L]. Urinary GAA was 2.4-5.8 micro mol/L [reference, 311 (191) micromol/L], and Cr+Crn was 2.1-3.3 mmol/L [reference, 9.9 (4.1) mmol/L]. We found a smaller decrease in GAA and Cr+Crn in some carriers of an AGAT defect. In the patient with GAMT deficiency, plasma and urine GAA was increased (18.6 and 1783 micromol/L, respectively), and Cr+Crn was decreased in plasma (10.7 micromol/L) and urine (2.1 mmol/L). GAA was increased in the parents' plasmas and in the mother's urine. CONCLUSION: The assessment of GAA is a new tool for the detection of both GAMT and AGAT deficiencies.

Amidinotransferases↗
PubMedDate not supplied

Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance.

BACKGROUND AND PURPOSE: Proton (hydrogen-1 [(1)H]) MR spectroscopy is a useful diagnostic tool in many metabolic diseases, but only scattered and inconclusive data are available on mitochondrial diseases. We performed MR imaging and (1)H MR spectroscopy of the brain in patients with different types of primary mitochondrial diseases to investigate the role of (1)H MR spectroscopy in the clinical evaluation of these disorders. METHODS: In 15 patients (11 adults, four children) with mitochondrial diseases, localized MR spectra were obtained at short TEs in cerebellar white matter, paratrigonal white matter, and parieto-occipital cortex that appeared normal on MR images. Additional spectra of basal ganglia and cortical gray matter structural lesions were obtained in three patients. RESULTS: A significant choline reduction and N-acetylaspartate reduction were found in areas that appeared normal on MR images. Lactate was never found in areas that appeared normal on MR images, except in two children in whom MR studies were performed during episodes of symptom exacerbation and revealed elevated lactate both in areas that appeared damaged on MR images and in normal-appearing areas. An additional abnormal signal at 0.9 ppm was found in a consistent number of studies. CONCLUSION: (1)H MR spectroscopy proved to be a useful investigational tool for mitochondrial diseases, as it enabled detection of metabolic abnormalities even in areas of brain that appeared normal on MR images, especially when it was performed during episodes of clinical relapses or clinical exacerbation.

Adult↗