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Biomedical subjects

U Balottin

Publications and source records attributed to U Balottin.

At least 19 recordsLinked to original sources
PubMed2001

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psychologic or intellectual language delay; neurologic signs, such as hypotonia, ataxia, and epilepsy; mental retardation ranging from mild to severe; and facial dysmorphisms. All patients present with a psychopathologic impairment that is highly variable in severity but always classifiable as pervasive developmental disorder (PDD). Many genetic mechanisms have been hypothesized to explain the clinical variability. This article describes the neurologic and psychopathologic features of six Inv dup(15) patients, one male and five females, between 8 and 14 years of age, all with a maternal marker chromosome. Four patients were diagnosed with PDD not otherwise specified, whereas two patients received a diagnosis of autism. Epilepsy was present in three patients (two generalized symptomatic and one focal symptomatic), and a correlation between the severity of the disease and its outcome was not always observed. Nevertheless, the influence of gene content of the marker chromosome, particularly the three gamma-aminobutyric acid-A receptor subunit genes, may represent the link between epilepsy, mental retardation, and PDD.

Adolescent↗
PubMed2000

Frontal nonconvulsive status epilepticus associated with high-dose tiagabine therapy in a child with familial bilateral perisylvian polymicrogyria.

PURPOSE: Antiepileptic drugs are known to exacerbate absence and myoclonic seizures, especially in patients with idiopathic generalized epilepsies. Exacerbation of nonconvulsive generalized seizures in patients with partial epilepsy is less common. Recently, however, a number of cases of putative generalized nonconvulsive status epilepticus (NCSE) or NCSE without further specification have been reported in patients with chronic partial epilepsy treated with the gamma-aminobutyric acid reuptake inhibitor tiagabine. Although complex partial status epilepticus during tiagabine therapy has also been reported, possible precipitation of NCSE specifically associated with frontal lobe discharges does not appear to have been recognized. In this communication, we describe the case of a boy with familial bilateral perisylvian polymicrogyria who developed frontal NCSE after being stabilized on high-dose tiagabine METHODS: A 12-year-old boy with familial bilateral perisylvian polymicrogyria, mental retardation, and refractory partial seizures was administered tiagabine in addition to sodium valproate. The tiagabine dosage was increased gradually up to 10 mg t.i.d. (1 mg/kg per day), resulting in complete seizure control. RESULTS: After 1 week on maintenance treatment, seizures were completely controlled, but the child developed hypoactivity, decreased reactivity, and affective detachment. An EEG recording revealed subcontinuous sharp-wave discharges with irregular runs of atypical spike-wave complexes over the anterior regions of both hemispheres, consistent with a diagnosis of frontal NCSE. A reduction in tiagabine dosage to 15 mg/day led to complete regression of the behavioral and affective changes and to disappearance of the subcontinuous EEG discharges. CONCLUSIONS: Although tiagabine-induced NCSE has been described previously, particularly in patients with preexisting spike-wave abnormalities, this is the first report that identifies its potential role in the precipitation of frontal NCSE.

Anticonvulsants↗
PubMed2000

Clinical characteristics of adolescent headache.

We evaluate clinical characteristics of headache in a group of subjects > 12 years to assess the sensitivity and specificity of the IHS criteria. We consider whether age at onset may influence the clinical features. We used a semi-structured questionnaire to examine 136 patients consecutively referred to our division. We considered the following subdiagnoses: IHS 1.1, 1.2, 1.7, 2.1, 2.2, 2.3. Migrainous disorders were found to be more common than non-migrainous headaches. A definite diagnosis was established in 68.1% of the migrainous group and in 86.6% of the tension-type headache group. Unilateral location, severe intensity of pain, the presence of nausea, vomiting, phonophobia and photophobia were features which differed between migrainous and non-migrainous subjects. No difference was found regarding aggravation of the headache by physical activity. On the basis of the criterion duration of attacks < 2 hours, IHS 1.7 was found to differ significantly from other migraine types. With the exception of the presence of vomiting in migrainous patients, the age at onset was not found to be a factor influencing the characteristics of the headache. Diagnostic criteria for migraine were highly specific but poorly sensitive, and those for tension-type headaches highly sensitive but less specific. The sensitivity/specificity of the IHS criteria in adolescent migraine can be influenced by the heterogeneity of the clinical characteristics. In fact, the intensity, the location and the quality of pain were similar to those found in childhood migraine, while the concomitant symptoms were less frequent than in childhood and in adult migraine. Further studies are needed to define the degree of severity of the clinical features in adolescent headache and to address the question of the validity of the IHS criteria.

Adolescent↗
PubMed1999

Bilateral perisylvian polymicrogyria in three generations.

A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.

Adult↗
PubMed1999

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.

Blindness↗
PubMed1998

[Cognitive functions in Turner's syndrome].

BACKGROUND: In this article, the interrelations between biological and emotional factors in learning disabilities in Turner's syndrome are studied. METHODS: This is a transversal study with a 18 months neuropsychiatric follow-up. Five girls with the syndrome, aged between 12 and 22 years have been studied using Wechsler scales (WISC-R and WAIS), individual interviews and psychodiagnostic tests, to describe both their cognitive profile and psychological traits. RESULTS: The intelligence tests show selective impairments in visuo-spatial area, with lower score on performance IQ, especially in the sub-tests "Block Design" and "Object Assembly"; individual interviews and psychodiagnostic tests show signs of psychological disease, often consequences of this syndrome, and only in one girl with an associated diagnosis of psychosis. CONCLUSIONS: Psychological and environmental factors, as well as the genetics, may play an important role in the impairment of cognitive abilities, and the neuropsychological aspects may not be related only with the organic substrate.

Adolescent↗
PubMed1997

Periodic syndrome and migraine in children and adolescents.

Many reports in the literature seem to confirm the hypothesis that the symptoms of periodic syndrome are precursors or the equivalent of migraine: the aim of this study was to assess the prevalence of periodic syndrome in a group of children and adolescents suffering from migraine in comparison with that observed in various control groups. We considered seven symptoms: recurrent vomiting and abdominal pain, migrating limb pain, vertigo, recurrent hyperthermia with no visible cause, sleep disturbances and eating disorders. The study involved 171 children divided into four groups; 42 migraineurs; 37 subjects with chronic nervous pathologies but no psychosomatic symptoms; 46 subjects with a known psychosomatic disease, and 46 healthy subjects. The prevalence of the symptoms in the different control groups was different, although the pattern was more similar in the migraineurs and psychosomatic patients than in the other control groups. The development continuum of the syndrome may support the view that periodic syndrome is predictive of the subsequent development of a psychosomatic pathology.

Adolescent↗
PubMed1997

Clinical characteristics and long-term outcome of migraine with aura in children and adolescents.

A population of 45 young subjects, 16 males and 29 females, affected by migraine with aura were studied prospectively. The mean follow-up was 7 years 6 months. The clinical characteristics and modifications during migraine aura attacks were evaluated. The aura propagated slowly with a pattern corresponding to a cortical pathway in the posteroanterior direction in 71% of the series, and was visual alone in 40%. Analysis of the relation between the course, and therefore prognosis, and the aura type showed that headache has a better prognosis when symptoms continue to be only visual. The International Headache Society (IHS) classification subdivides migraine with aura into six categories based on the duration of symptoms and the clinical characteristics (hemiplegic, basilar). Our results suggest that subjects with only visual aura should be considered separately, possibly as a seventh category, because they may have a more favourable prognosis.

Adolescent↗
PubMed1997

[Eating behavior disorders. Epidemiologic study of 434 adolescents].

METHODS: An epidemiological investigation of behavior disorders in a population of 434 students (52.3% males, 47.7% females) ranging from 16 to 19 years of age has been carried out. Possible correlations between eating disturbances, drug addiction related behaviors, suicide attempts and former sexual abuses have been discussed. An anonymous self administered questionnaire, prepared by the authors, had been used. The statistical analysis was carried out with the SPSS/PC Factor software. RESULTS: This study revealed the presence of adolescents with unstable or quantitatively not adequate eating behaviors, which are expressed by borderline symptoms and not by clear syndromes. Distorted attitudes towards weight, body and food, related to disturbances of body image, were pointed out. In particular, girl seemed to be unhappy with their own body. There was a correlation between abnormal eating behaviors (borderline bulimia) and low level of selfesteem. "Anorexic behavior" and "bulimic behavior" had a significant correlation to suicide attempts. A relationship between "bulimic behavior" and use/abuse of drugs and/or alcohol was found. In our population several kinds of violence were found (2.6% sexual abuse with physical contact; 13.5% sexual abuse without physical contact; 9.4% physical abuse) experienced inside or outside families. The adolescent victims of sexual abuse showed abnormal eating behavior, mostly a tendency to a "bulimic behavior". CONCLUSIONS: This study seems to confirm that there are significant correlations and several conduct disorders. Moreover the presence of a correlation between eating disturbances, even if borderline and traumatic events of sexual nature is confirmed.

Adolescent↗
PubMed1995

[Classification systems for the clinical approach to pervasive developmental disorders].

This paper compares four systems for the classification of pervasive developmental disorders: DSM-III-R, ICD-10, the French classification of mental disorders in children and adolescents and Manzano and Palacio-Espasa's operational classification. Five children were examined according to a protocol which included clinical and instrumental examination, the BSE scale, a development scale and a psychodynamic observation recorded by video camera. A detailed discussion of the diagnosis of one of the cases is reported as an example, while a synthetic description is given of the other four. The comparison highlights the characteristics of the four systems considered. The differing theoretical premises which inspire them mean that it is important to use all four in the clinical investigation of each case: DSM-III-R and ICD-10 can be used for the initial screening, whilst the other two can be used to classify more specifically all the forms of infantile psychosis.

Autistic Disorder↗
PubMed1995

[Possible relationship between childhood malaise and psychiatric disorders in adulthood. Preliminary study on an in-patient sample from the psychiatric unit of the general hospital in Pavia].

The authors report the preliminary data of a study which aims to identify the variables (socio-demographic, clinical and nosographic) which may be used to predict the evolution of psychiatric disorders. A retrospective follow-back study was carried out using the medical records and any other documentation available from medical and psychological centers in order to identify the evolutionary stages of disease and possible pre-disease antecedents. The sample group examined was selected from users attending the Diagnosis and Treatment Psychiatric Unit at Pavia Hospital who were found to have undergone infantile neuropsychiatric outpatient or hospital treatment during childhood. The preliminary phase of the study reports the results of the first 42 cases. The predictive value of the diagnosis made during childhood emerges from an analysis of the results and consequently emphasises the need to orient Infantile Neuropsychiatric structure not only towards diagnosis and care but also, towards a more strictly therapeutic action.

Age Factors↗
PubMed1994

Benign paroxysmal vertigo of childhood: a long-term follow-up.

We examined clinical aspects of Benign Paroxysmal Vertigo (BPV) in infancy and its most frequent differential diagnosis, in particular analogies and differences with forms of "migrainous vertigo" (MV) of later onset. During a long-term follow-up of 7 cases of BPV, diagnosed according to the Basser criteria, 5 of 7 BPV cases spontaneously resolved and 6 of 7 patients later developed migraine and other migraine-related symptoms. This course differs from that described for MV only in the age of onset of headache and in the chronological relationship with vertigo. The authors suggest that BPV can be interpreted as a migraine precursor and MV as a migraine equivalent.

Age of Onset↗
PubMed1994

A prospective study of juvenile migraine with aura.

We studied a group of young migraine with aura patients with whom it was possible to reconstruct the course and the characteristics of the disturbances preceding or accompanying the onset of the headache. The 47 subjects, 31 female and 16 male, were diagnosed (IHS classification) as Migraine with typical aura (n = 40), Familial hemiplegic migraine (n = 1), Basilar migraine (n = 6), and Migraine with prolonged aura (n = 5). Visual (43 cases) and sensory disturbances (20 cases) were the most commonly described symptoms; a motor deficit was reported in 10 out of 47 cases. Other disturbances such as vertigo attacks, aphasia, spatial disorientation, loss of consciousness or a decreased level of consciousness with the appearance of automatic movements, were much rarer. In our cases the visual disturbances were not isolated but were accompanied by other symptoms in 29 cases, and in 5 of the 18 cases in which there were only visual symptoms, the disturbances presented in succession; a "march" of the sensory and motor disturbance was found in 66% and 68% of cases, respectively. The data from our cases in which the disturbance seems most frequently to originate in the occipital areas (visual disorders) and then to spread to the temporo-parietal regions in part confirms that there is a posterior to anterior dynamic in the cerebral areas involved.

Adolescent↗
PubMed1993

Relational and therapeutic aspects of children with late onset of a terminal disease.

The authors studied the patterns by which children and adolescents with spinal amyotrophy face their disease and the psychological difficulties involved. Five case histories regarding forms II and III of spinal amyotrophy are discussed in detail. Intense and recurrent anguish about death and the image of a narcissistically injured self were found to be present in all patients. We believe that these are the emotional elements that are most important in influencing the development of the child's relations with his own mental objects. This should be taken into account in any type of approach to the treatment of patients with this disease.

Adaptation, Psychological↗
PubMed1993

Concurrent nocturnal and diurnal paroxysmal dystonia.

The authors describe a case of a 15-year-old girl who presented with a progressive sequence of nocturnal dystonic episodes, generalized seizures, and diurnal dystonic episodes. A diagnosis of nocturnal paroxysmal dystonia has been proposed in view of the association between nocturnal episodes and epileptic seizures, while the diurnal episodes are atypical. Neurophysiological data recorded during critical episodes are reported. A linkage between dystonic attacks and epilepsy is hypothesized.

Adolescent↗