Migraine with aura with onset in childhood and adolescence: long-term natural history and prognostic factors.

The long-term course of migraine with aura (MA) has been poorly explored. The present 11-year follow-up study assessed the long-term natural history and possible prognostic factors of MA with onset in childhood or adolescence. Patients were recruited from the original case records of our department, which are specifically designed to report all headache characteristics, aura symptoms and electroencephalogram (EEG) findings. A total of 77 patients (47 females; 30 males) whose records contained detailed descriptions of both headache and aura symptoms apparently meeting the International Classification of Headache Disorders (ICHD)-II criteria for MA (i.e., 1.2.1, 1.2.2, 1.2.6) underwent structured face-to-face follow-up headache interviews, all of which were conducted by the same neurologist, who has particular expertise in this field. A multivariate model (logistic regression analysis) was used to investigate the association between possible prognostic factors and the remission of both aura and headache at follow-up. The results of our study showed that 23.4% of the MA patients were headache-free at follow-up, 44.1% still had MA and 32.5% had a transformed headache diagnosis (i.e., fulfilling the criteria for ICHD-II 1.1. or 2). Patients with basilar-type migraine (1.2.6) showed the highest headache remission rate (38.5%). Our study seems to show that migraine with typical aura (1.2.1-1.2.2) is associated with a favourable evolution of aura symptoms over time (remission of aura in 54.1% of patients). Subjects experiencing only visual aura had a lower remission rate compared with those with visual +/- sensory +/- aphasic aura symptoms (36.8% vs. 61.5%, p = 0.054). A short headache duration (<12 hrs) and the presence of EEG abnormalities at baseline were the only significant predictors of aura remission at follow-up (odds ratio [OR] = 9.12, 95% confidence interval [CI]: 1.79 +/- 46.51, and OR = 4.76, 95% CI: 1.18 +/- 19.15, respectively). No significant predictors of headache remission were found. In conclusion, our results suggest that MA shows a favourable course. Further prospective studies with detailed EEG analysis both at baseline and at follow-up are needed in order to confirm the possible prognostic role of EEG abnormalities in MA. That said, it would, in our opinion, be highly premature at present to submit children with MA to EEG examinations for prognostication purposes.

Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene.

Using a Sendai Virus based vector delivering Yamanaka Factors, we generated induced Pluripotent Stem Cells (iPSCs) from peripheral blood mononuclear cells of a patient affected by Ataxia Telangiectasia (AT), caused by a novel homozygous deletion in ATM, spanning exons 5-7. Three clones were fully characterized for pluripotency and capability to differentiate. These clones preserved the causative mutation of parental cells and genomic stability over time (>100 passages). Furthermore, in AT derived iPSCs we confirmed the impaired DNA damage response after ionizing radiation. All these data underline potential usefulness of our clones as in vitro AT disease model.

Pharmacological treatment of anorexia nervosa: a retrospective study in preadolescents and adolescents.

To date, studies addressing the role of pharmacotherapy in the treatment of anorexia nervosa are limited, especially in childhood and adolescence. The aim of this retrospective naturalistic study was to evaluate the efficacy and safety of pharmacotherapy in 19 anorexic preadolescents and adolescents referred, for the first time, to a specialist psychiatry unit. Almost all the patients showed an improvement both in their eating behaviors, and in their mood and obsessive symptoms. No evidence was found of dangerous adverse events. Combined with a multidisciplinary approach that includes nutritional rehabilitation and psychotherapy, adjunctive pharmacotherapy may be useful in addressing both eating disorder psychopathology and comorbid psychiatric disorders.

Continuous recording of direct high fidelity arterial pressure and electrocardiogram in ambulant patients.

A system providing high quality direct arterial blood pressure recordings and electrocardiograms in ambulatory patients was devised using a modified commercially available Holter type magnetic tape recorder together with a microminiature Millar (3F) tip transducer. This system did not require a perfusion line and solved the major drawbacks of other available systems. Pressure and electrocardiographic data were fed directly from the playback unit into a minicomputer for automatic beat to beat waveform analysis. Thus the blood pressure and RR interval variability signals could be simultaneously analysed with autoregressive modelling techniques to provide a quantitative estimate of sympathovagal balance in ambulant patients. The system was reliable, simple, and safe to use.

Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.

We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).

Comparison of omeprazole and lansoprazole in short-term triple therapy for Helicobacter pylori infection.

BACKGROUND: Effective anti-Helicobacter pylori therapies with few side-effects are needed. AIM: To study the effectiveness of short-term triple therapy with amoxycillin, clarithromycin and either omeprazole or lansoprazole for eradication and healing of peptic ulcers. METHODS: Patients with gastric or duodenal ulcers received amoxycillin (1 g b.d.), clarithromycin (500 mg b.d.) and lansoprazole (30 mg b.d.) (LAC) or omeprazole (20 mg b.d.) (OAC) for 7 days. Endoscopic examinations were performed before treatment and at least 4 weeks after completion of therapy. H. pylori status was confirmed by rapid urease test and histological examination (Giemsa stain) from gastric biopsies taken from both the antrum and the body. RESULTS: A total of 356 patients were randomized in this single-blind study. On a per protocol basis, H. pylori was eradicated in 134 of 170 patients (79%) in the lansoprazole group and in 105 of 146 (72%) in the omeprazole group (P = 0.189); and in intention-to-treat analysis 72% and 62%, respectively (P = 0.043). Healing of the ulcers was obtained in 166 of 186 (98%), and in 139 of 146 patients (95%), respectively (P = 0.357). Side-effects occurred in two patients in the LAC group and in six in the OAC group B (four stopped therapy). CONCLUSIONS: This study has shown that the two regimens are highly effective in healing duodenal ulcers and are well tolerated. Neither treatment achieves the ideal cure rate for H. pylori. Lansoprazole does not appear to have a significant advantage over omeprazole either in ulcer healing or in H. pylori eradication.

Breathing patterns and HbSaO2 changes during nocturnal sleep in patients with Duchenne muscular dystrophy.

A night-time polygraphic sleep recording with continuous HbSaO2 monitoring was performed in 11 chair-bound Duchenne muscular dystrophy patients with severe restrictive lung disease but with blood gas values within normal limits when awake. No abnormalities of sleep pattern were detected. Nocturnal sleep did not have significant adverse effects on respiration. However, in 6 patients, infrequent central apnoeas or hypopnoeas occurred which were associated with falls in HbSaO2 greater than those that have been reported to be in normal subjects. The magnitude of HbSaO2 falls appeared to be significantly correlated with functional residual capacity values. Overall, the findings revealed a relatively preserved, although unstable, blood O2 balance during nocturnal NREM and REM sleep in patients with Duchenne muscular dystrophy, even in an advanced stage of their illness.

Transsynaptic degeneration of lateral geniculate bodies in blind children: in vivo MR demonstration.

PURPOSE: To investigate signal alterations in the thalamic lateral geniculate bodies of blind patients compatible with transsynaptic degeneration of these nuclei caused by pregeniculate or postgeniculate interruption of the visual pathway. METHODS: Six patients were selected from a group of blind children in our care. Four had cerebral palsy caused by periventricular leukomalacia, one had infantile neuroaxonal dystrophy, and one had Chiari I malformation and hydrocephalus, which was worsened by bilateral ischemic lesions of the occipital lobes. MR examinations (obtained at 0.5 T) were reviewed retrospectively by two neuroradiologists, with particular attention to the visual pathway. RESULTS: Symmetric, focal areas of T2 prolongation were found at the precise site of the lateral geniculate bodies. CONCLUSION: Anterograde (pregeniculate) and retrograde (postgeniculate) transsynaptic degeneration of the second neurons of the visual pathway produce alterations in MR signal.

Cerebral visual impairment in periventricular leukomalacia: MR correlation.

PURPOSE: To evaluate the involvement of central visual pathways in cases of periventricular leukomalacia, and to correlate the neuroradiologic findings with the degree of visual acuity. METHODS: The MR brain examinations of 27 preterm children affected by cerebral palsy resulting from periventricular leukomalacia and without significant ophthalmologic lesions were reviewed retrospectively to search for possible involvement of the optic radiations and/or of the calcarine cortex. The data were compared with the degree of visual acuity estimated by means of the Teller Acuity Cards test. RESULTS: Seventeen (63%) of the 27 patients had cerebral visual impairment, which correlated strongly with MR lesions. Quantitative reduction and signal hyperintensity of the peritrigonal white matter and atrophy of the calcarine cortex were present in the more severe cases. In two blind patients, an altered MR signal was detected in the lateral geniculate bodies. CONCLUSION: This study clearly establishes a relationship between specific MR findings and visual impairment in children with periventricular leukomalacia. The finding of hyperintensity in the lateral geniculate bodies was interpreted as an axonal reaction. MR imaging is useful for detecting potential visual impairment and for improving clinical diagnosis.

Prospective study of first-line vigabatrin monotherapy in childhood partial epilepsies.

This was a prospective open comparative pilot study to assess the efficacy and tolerability of first-line vigabatrin monotherapy in childhood partial epilepsies. Two groups of patients were recruited over the same period. The vigabatrin monotherapy group comprised 40 patients (18 male, 22 female; mean age at last visit 7.5 years); the comparative carbamazepine monotherapy group comprised 40 consecutive clinic patients (22 male, 18 female; mean age at last visit 7.8 years). Seizures disappeared in 82% of vigabatrin patients and in all carbamazepine patients with idiopathic partial epilepsy, and in 50% of vigabatrin patients and 55% of carbamazepine patients with symptomatic partial epilepsy. Interictal EEG abnormalities decreased in vigabatrin patients more than in carbamazepine patients (P < 0.05). Tolerability was good in vigabatrin patients, but four out of 37 showed mild irritability by the end of the trial. Persistent sedation was observed in eight of the 40 patients receiving carbamazepine. No patient had drug therapy discontinued because of side-effects. During vigabatrin long-term monotherapy, efficacy and good clinical tolerability were maintained. These results suggest that vigabatrin may be an alternative first-line treatment for childhood partial epilepsies. Further blinded comparative randomized trials are needed.

Central motor conduction time in children and adolescents with insulin-dependent diabetes mellitus (IDDM).

Measurement of central motor conduction time (CMCT) after percutaneous magnetic stimulation of the brain is an electrophysiological method that may discover subclinical impairment of central nervous system (CNS). In order to detect an impairment of CNS, we measured CMCT right (R) and left (L) after percutaneous stimulation of the brain in 34 patients affected by insulin-dependent diabetes mellitus (IDDM) (16 males and 18 females), aged 16.4 +/- 4.1 years (7.3-23.2 years), with duration of disease 7.6 +/- 4.9 years (7/12-16 years), and HbA1c annual mean 7.41 +/- 1.1% (n.v. 5.14 +/- 0.84%). Twenty-three sex- and age-matched healthy subjects served as controls. In our IDDM patients we observed a delay of CMCT R (P < 0.0005) and L (P < 0.0005) as compared to controls. No correlation was found between CMCT (R and L) and chronologic age, duration of disease, peroneal motor nerve conduction velocity. No association was observed between CMCT (R and L) and HLA antigens. On the basis of IDDM duration, patients were divided into 2 groups (G): G I (9 pts) with IDDM < 2 years and G II (25 pts) with IDDM > 5 years, 12 of them with precocious signs of one or more microangiopathic complications. No difference in CMCT (R and L) was observed between the 2 groups and between G I and controls; G II patients had a longer delay of CMCT R (P < 0.0001) and L (P < 0.0001) than controls. In G II patients, a positive correlation between CMCT R and HbA1c of the 5 years before the test (P < 0.025) was also observed.(ABSTRACT TRUNCATED AT 250 WORDS)

Infantile autism and computerized tomography brain-scan findings: specific versus nonspecific abnormalities.

The hypothesis that specific computerized tomography brain-scan findings are associated with infantile autism was tested in 45 cases and 19 controls. The autistic group was subdivided into serious and less-serious language-impaired subgroups. The analysis of Euclidean Distances, a type of cluster analysis, showed that neuroradiological parameters of cases and controls, including ventricular sizes, were on the whole significantly different, but no statistically significant difference appeared between the two autistic subgroups. But the analysis of variance of each neuroradiological parameter did not show any significant difference between autistics and controls. It was concluded that autism is nonspecifically associated with brain-scan abnormalities, and that other nonorganic, as well as organic, factors should be taken into account.

Electrophysiologic study of central motor pathways in ataxia-telangiectasia.

To date, corticospinal tract functional integrity in ataxia-telangiectasia has not been studied. Thorough evaluation of central motor pathways is also lacking in neuropathologic and clinical studies. Using electromagnetic stimulation, we assessed the integrity of the corticospinal tracts in eight patients with ataxia-telangiectasia. Cortical and peripheral compound motor action potentials were recorded from the abductor pollicis brevis muscle. Recordings of the shortest F-wave latency and of the compound motor action potential distal latency were made from the abductor pollicis brevis muscle after electrical stimulation of the median nerve at the wrist. A significant increase in central motor conduction time was observed in four patients, two of whom had clinical findings compatible with a pyramidal lesion. This study demonstrates involvement of the central motor pathways in ataxia-telangiectasia, which appears to be more frequent late in the course of the disease.

Seizure and EEG patterns in Angelman's syndrome.

We studied the seizure and polygraphic patterns of 18 patients with Angelman's syndrome. All patients showed movement problems. Eleven patients were also reported to have long-lasting periods of jerky movements. The polygraphic recording showed a myoclonic status epilepticus in nine of them. Seven patients had partial seizures with eye deviation and vomiting, similar to those of childhood occipital epilepsies. These seizures and electroencephalographic patterns suggest that Angelman's syndrome occurs in most of the patients as a nonprogressive, age-dependent myoclonic encephalopathy with a prominent occipital involvement. These findings indicate that, whereas ataxia is a constant symptom in Angelman's syndrome, the occurrence of a transient myoclonic status epilepticus may account for the recurrence of different abnormal movements, namely the jerky ones.

A correlated fluctuation of language and EEG abnormalities in a case of the Landau-Kleffner syndrome.

Despite growing interest in the Landau-Kleffner syndrome there have been few reports dealing with language disorders in recent years. The authors present a clinical case of a child with Landau-Kleffner syndrome focusing particularly on the relationship between language disorders and electroencephalographic abnormalities. The authors emphasize that the language disorders primarily affect the receptive sphere and that there seems to be a relationship between abnormalities during sleep with a deterioration in verbal comprehension.

Ring chromosome 9: an atypical case.

A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient presents some peculiarities, such as corpus callosum hypoplasia and epileptic seizures (infantile periodic spasms). We also observed a reduced level of leukocyte interferon alpha whose synthesis is controlled by a gene on chromosome 9 and which could be responsible for the recurrent respiratory tract infections, typical and sometimes fatal in these patients.

Early predictors of neurodevelopmental outcome at 12-36 months in very low-birthweight infants.

We followed-up 71 preterm survivors, 36 (50.7%) females and 35 (49.3%) males, correlating the results of neurological examinations (NE) at 40 weeks of corrected gestational age (GA) and the cerebral ultrasound (US) diagnosis with the neurodevelopmental outcome at 12-36 months of life. All 34 children with normal NE at term presented adequate neurodevelopmental outcome; these subjects have a normal US scan or a scan that is pathologic for uncomplicated hemorrhage. Of the 6 children with pathologic NE, but a normal US, 3 (50%) had a normal outcome, while 2 (34%) had mild impairments and 1 (16%) grave neurodevelopmental deficits. Of the 31 subjects with pathologic NE and US, 12 (39%) showed a normal outcome, and 6 (19%) had mild and 13 (42%) grave neurodevelopmental deficits; signs of parenchymal lesions with or without periventricular hemorrhage were particularly correlated to US. We conclude that the combination of the results of NE at 40 weeks GA and brain US are useful in early neurodevelopmental prognosis in very low-birthweight infants.

Stereotyped behaviours in blind children.

Stereotyped behaviours occur frequently in blind children. Most authors attribute stereotyped mannerisms to factors such as hospitalisation, motor limitations, and reduced capacity for exploration. There seems to be a specific association between blindness and behavioural mannerisms, such as eye pressing and eye poking, which have been observed in children with peripheral blindness. We studied the prevalence of stereotyped motor behaviours in a sample of congenitally blind children with and without other neurodevelopmental disabilities in order to assess the types and features of such stereotyped behavioural traits. Twenty-six congenitally blind children (11 male and 15 female) were assessed through videotape recording and through a questionnaire focusing on the type, frequency, form of manifestation and duration of the children's stereotyped behaviours. Stereotyped behavioural traits were observed in 19 (73%) of the patients. Stereotyped behaviours most frequently observed were body rocking (8; 30.7%), repetitive handling of objects (8; 30.7%), hand and finger movements (7; 26.9%), eye pressing and eye poking (8; 30.7%), and lying face downwards (6; 22.8%) and jumping (3; 11.4%). We found that a reduction in stereotyped behavioural traits could be obtained by stimulating appropriate adaptive behaviour in children, while these behaviours were increased by restricted environmental conditions, reduced sensory stimulation and reduced motility.

Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis.

We describe the long-term development of 53 very low birth weight premature infants. The children were divided into 2 groups on the basis of ultrasound scan, and classified as: group I, patients with normal ultrasound scan or with uncomplicated hemorrhage; and group II, patients with complicated hemorrhage or only parenchymal lesions. Minor and major sequelae detected at 2 years of age were compared with those observed at 5 to 7 years. Our study confirms that most severely handicapped children are identified by age 2 years. Minor sequelae are more evident at 5 to 7 years and subjects with good outcome, as expressed by a McCarthy General Cognitive Index score > 80, present a discordant cognitive profile with verbal scores higher than performance scores. Therefore, we emphasize the importance of follow-up of very low birth weight premature infants until school age and stress that neonatal ultrasound scan diagnosis of parenchymal damage represents an important diagnostic tool in terms of both short- and long-term neurodevelopmental outcome.

Electrical status epilepticus on eye closure: a case report.

The authors present the clinical case of a boy manifesting eyelid myoclonias on eye closure. The corresponding electroencephalographic recording was characterized by unceasing spike activity, constituting a sort of electrical status epilepticus. There was no loss of consciousness or differences between results of neuropsychological tests with eyes open and closed.