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ABSTRACT: Headache is a disease that has a high social impact in the paediatric as well as in the adult population, often resulting in a significant reduction in the young patient's quality of life, reflected primarily in a greater number of days off school and increasingly frequent recourse to symptomatic drugs. The idea for this study came from the clinical impression that some paediatric headache patients might benefit more from inpatient than outpatient care.
The aim of our study was to compare the effectiveness of hospitalization to outpatient care of patients with newly diagnosed frequent and disabling headache.
A pragmatic randomized open-label trial was conducted at the Child Neurology Clinic of the University of Pavia, Italy. Children and adolescents with a 2- to 6-month moderate-to-severe migraine or tension-type headache history were randomized to hospital admission or outpatient assessment and followed for 6 months. The efficacy of the two therapeutic strategies was measured by counting the number of responders in each arm. Other end points included the mean frequency and duration of attacks, the number of drug prescriptions taken to control pain, and the number of patients and physicians expressing satisfaction with treatment.
The study population included 27 girls and 23 boys aged 8 through 18 years with migraine (23 cases) or tension-type headache (27 cases). Compared to outpatient assessment, hospital admission was correlated to a significant increase in the number of responders: 0 vs. 44% (1 month), 0 vs. 68% (3 months), and 12 vs. 68% (6 months). The mean frequency and duration of attacks were significantly lower in hospitalized patients (p < 0.0001). Hospitalization was correlated with a significant reduction of patients with severe headache (p < 0.005), a reduction of drug use, and a higher number of satisfied patients and physicians (p < 0.05). Logistic regression analysis confirmed the higher responder rate among hospitalized patients after adjusting for age, sex, diagnosis, and headache characteristics or admission.
We think hospitalization reduces the emotional mechanisms that provoke stress in children and often induce or favour headache attacks. If these mechanisms can be interrupted, the management of disease may become easier and with enduring benefits.
Psychopathology 01/2007; 40(1):1-7. · 1.82 Impact Factor
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ABSTRACT: Since cognitive and behavioural characteristics of paediatric migraine sufferers have yet to be adequately defined, in this study we assessed the effect of migraine on the interictal functioning of children and adolescents by comparing the performance of two patient groups, 17 migraine sufferers with aura (MA) and 31 without aura (MoA) and by correlating the duration of the disorder, the frequency of attacks and interictal period with neuropsychological and behavioural findings. Both patient groups had cognitive performance within normal range except for a significant delay in the reaction time (RT) task. Both MA and MoA revealed a behavioural phenotype characterized by internalizing problems on Child Behaviour Check List (CBCL) scales. Slower RT to simple visual stimuli may be an early sign of a subclinical neuropsychological dysfunction, significantly correlated with the frequency of headache attacks and interictal period. The lack of a control group and other methodological limitations, such as patient selection bias and unadjusted P-value for multiple testing, make it difficult to give this finding a clearcut meaning. Further studies are needed on larger samples compared with a control group.
Cephalalgia 06/2006; 26(5):596-603. · 3.43 Impact Factor
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D Riva,
G Avanzini,
S Franceschetti,
F Nichelli,
V Saletti,
C Vago,
C Pantaleoni, S D'Arrigo,
E Andreucci,
F Aggio,
N Paruta,
S Bulgheroni
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ABSTRACT: Very few studies to date have investigated the neuropsychological changes detectable in children suffering from frontal lobe epilepsy (FLE). The aim of the present study was to assess the effects of FLE on cognitive and executive functions in childhood. The sample includes 17 children with a frontal epileptogenic focus (10 right and 7 left), with no evidence of anatomical brain damage. These subjects were assessed by means of a battery of tests to investigate executive functioning. The results emphasised the presence of selective impairments of frontal lobe functions without evidence of deficits in global intellectual functioning. No side-specific deficits were detected, while an earlier onset of epilepsy and the duration of the disorder, but not the seizures frequency, were found to correspond with more severe deficits in some specific frontal lobe functions.
Neurological Sciences 11/2005; 26(4):263-70. · 1.32 Impact Factor
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ABSTRACT: Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.
Neurology 06/2005; 64(9):1621-4. · 8.31 Impact Factor
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ABSTRACT: The objective of the study was to assess whether a family history of vascular disorders is more common in children and adolescents with migraine than in the general population. Family history of stroke, arterial hypertension, myocardial infarction and diabetes was investigated by history taking in relatives of ambulatory children and young adults with migraine and in a control group. The odds ratios (ORs) with 95% confidence intervals (95% CI) were used as a risk measure. Using univariate and multivariate (logistic regression) analysis, family history was assessed in the whole sample and in subgroups by sex and age, degree of relationship (parents and grandparents vs. relatives), disease type (migraine with and without aura), and type of vascular disorder. The sample included 143 cases (migraine with aura 35, migraine without aura 108) and 164 controls aged 3-24 years (mean 12 +/- 3.8 years). Patients with migraine were at increased risk of vascular disorders in parents and grandparents but not in all relatives. Multivariate analysis indicated family history of stroke as most common only in boys. In conclusion, our study provides some clues to the assumption that migraine and vascular disorders have common pathogenic mechanisms and that genetic susceptibility plays a role in increasing the risk of migraine in the offspring of families with one or more cerebrovascular or cardiovascular conditions.
Cephalalgia 12/2003; 23(9):887-91. · 3.43 Impact Factor
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ABSTRACT: Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.
Brain and Development 04/2001; 23(2):125-7. · 2.12 Impact Factor
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ABSTRACT: We evaluate personality traits, anxiety and depression in a population of paediatric and adolescent patients, correlating personality characteristics with headache and sociodemographic variables. The clinical features of headache include specific personality traits. We report a clinical study of 57 patients (age 8-18 years), divided up as follows: 12 migraine with aura, 29 migraine without aura and 16 tension-type headache. One of Cattel's tests was administered to every patient; the Children's Depression Inventory test was administered to 53 patients and the Test Anxiety Inventory test to 43 subjects. The scores obtained by every patient in each test were correlated with the characteristics of headache and with sociodemographic data. We found that patients affected by idiopathic headache share some personality traits, mainly emotional rigidity and tendency to repress anger and aggression. These traits do not seem to be correlated with sociodemographic data and the duration of headache: we considered these as characteristic of migrainous patients.
Cephalalgia 03/2001; 21(1):53-60. · 3.43 Impact Factor
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ABSTRACT: 3-Methylglutaconic aciduria is a rare hereditary metabolic disorder characterized by increased urinary excretion of 3-methylglutaconic and 3-methylglutaric acids. Four clinical forms are recognized. This study presents the case of a 5-year-old male with type IV 3-methylglutaconic aciduria, initially diagnosed as "static encephalopathy." The slow evolution and other clinical characteristics, together with cerebral magnetic resonance imaging (MRI) findings, eventually directed the diagnosis to organic aciduria that was confirmed by urine test. This study proposes that the clinical criteria for childhood cerebral palsy should be rigorously respected; neuroimaging studies, particularly MRI, should be conducted to confirm the diagnosis, especially in atypical cases.
Pediatric Neurology 12/2000; 23(5):442-4. · 1.52 Impact Factor
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ABSTRACT: 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.
Functional neurology 02/2000; 15 Suppl 3:106-15. · 1.52 Impact Factor
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M. Iannicelli,
F. Brancati,
S. Mougou-Zerelli,
A. Mazzotta,
S. Thomas,
N. Elkhartoufi,
L. Travaglini,
C. Gomes,
G. L. Ardissino,
E. Bertini, [......],
D. Swistun,
E. Flori,
F. Lalatta,
C. Pantaleoni,
J. Penzien,
P. Grammatico,
B. Dallapiccola,
J. G. Gleeson,
T. Attie-Bitach,
E. M. Valente
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ABSTRACT: Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
Hum Mutat. 31(5):E1319-31.
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M. Iannicelli,
F. Brancati,
S. Mougou-Zerelli,
A. Mazzotta,
S. Thomas,
N. Elkhartoufi,
L. Travaglini,
C. Gomes,
G. L. Ardissino,
E. Bertini, [......],
D. Swistun,
E. Flori,
F. Lalatta,
C. Pantaleoni,
J. Penzien,
P. Grammatico,
B. Dallapiccola,
J. G. Gleeson,
T. Attie-Bitach,
E. M. Valente
[show abstract]
[hide abstract]
ABSTRACT: Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
Hum Mutat. 31(5):E1319-31.
