[Show abstract][Hide abstract] ABSTRACT: The aim of this study was to investigate the frequency of reading, writing, and calculation disabilities in children with typical rolandic epilepsy (RE) and healthy control children. We also aimed to define the possible electroclinical markers of specific cognitive dysfunctions in RE. School abilities were evaluated and compared in 20 children (eight males, 12 females; mean age 10y 3mo [SD 1y 7mo]; range 7y 9mo-12y 9mo) consecutively diagnosed with typical RE, and a group of 21 healthy controls (nine males, 12 females; mean age 10y 4mo [SD 1y 8mo]; range 7y 6mo-13y 3mo). All the children received standardized neuropsychological tests. For each patient an exhaustive seizure diary was kept and all the sleep electroencephalogram (EEG) recordings were reviewed. Specific difficulties with reading, writing, and calculation (diagnosed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition) were found in nine out of 20 children with RE and two out of 21 healthy controls (chi2=0.01). The specific learning disabilities in the RE group were correlated with a marked increase in epileptiform discharges during sleep (chi2=0.02) and an early onset of epilepsy (chi2=0.02). Our findings suggest that seizure onset before age 8 years and epileptiform discharges (more than 50% of the sleep EEG recording) in several tracings over more than a year are relevant markers for identifying patients at risk of developing academic difficulties.
[Show abstract][Hide abstract] ABSTRACT: Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, hemorrhage, recurrent headaches, and focal neurologic deficits. These CCMs can occur as sporadic or autosomal dominant conditions, although with incomplete penetrance and variable clinical expression. Three CCM loci have been identified, on chromosomes 7q21-22 (CCM1; Online Mendelian Inheritance in Man [OMIM] 116860), 7p13-15 (CCM2; OMIM 603284), and 3q25.2-27 (CCM3; OMIM 603285), and 3 genes have been cloned, KRIT1 on CCM1, MGC4607 on CCM2, and PDCD10 on CCM3. Mutations in KRIT1 account for more than 40% of CCMs.
To describe the results of a comprehensive evaluation of 5 Italian families affected with CCM.
Clinical, magnetic resonance imaging, and KRIT1 gene analysis.
University academic teaching hospitals.
Fifteen patients with CCM diagnosed according to defined criteria and 45 at-risk, symptom-free relatives.
Three novel and 2 described mutations were found in KRIT1. The families included 33 KRIT1 mutation carriers, 57.6% of whom had no symptoms. Magnetic resonance imaging revealed CCM lesions in 82.3% of symptom-free mutation carriers.
The data confirm both incomplete clinical and neuroimaging penetrance in families with the KRIT1 mutation. This consideration is important in genetic counseling. Moreover, the data emphasize both the importance of magnetic resonance imaging in the diagnosis of CCM and the potential for DNA-based diagnosis to identify subjects at risk.
[Show abstract][Hide abstract] ABSTRACT: To investigate the clinical features of idiopathic headache with early onset, whose presence is probably underestimated by parents and physicians and the influence of environmental and psychological factors on headache in children.
We report on a prospective longitudinal evaluation of 35 consecutive children referred to the Neuropsychiatry Departments of the Universities of Varese and Pavia (mean age at the first observation: 4 years and 7 months, range: 12 months-6 years; mean age at onset: 4 years and 2 months, range: 10 months-6 years) presenting with headache symptomatology. Mean duration of clinical follow-up: 9.5 months. The diagnosis based on the IHS criteria was then compared to the intuitive clinical diagnosis made in accordance with alternative case definitions. We examined our patients for the presence of early developmental disorders and interictal somatic disorders. We also studied the role of psychosocial factors at the onset and in the course of headache.
Diagnosis: migraine without aura in two cases, episodic tension headache in four cases, migrainous disorders not fulfilling above criteria in eight cases, headache of the tension-type not fulfilling above criteria in 12 cases and headache not classifiable in nine cases. Clinical features of headache are described in the text. Early developmental disorders (0-2 years), such as eating difficulties and sleep disorders, were detected in 18/35 children. Among patients older than 2 years, we also detected interictal somatic disorders (20 cases) such as sleep disorders, eating difficulties, enuresis and idiopathic vomiting. In 14/35 subjects, we identified psychosocial components playing a significant role at the onset of, and during, the headache.
A better clinical definition of the disorder would make it easier to identify very young affected children and consequently to plan more specific therapeutic interventions, taking into account environmental and psychological factors. A diagnosis of idiopathic headache becomes particularly significant: according to our cases, despite their being limited in number, migraine and tension headache can be considered also as indices of individual or family related problems requiring appropriate psychiatric or psychological intervention. This stresses the need for a multidisciplinary team of specialists that would include a psychologist/ psychiatrist or headache specialist with specific training in psychiatry.
European Journal of Pain 09/2004; 8(4):307-14. · 3.07 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The authors report the personality characteristics of 30 subjects, 16 males and 14 females, average age 13.7 years: 13 suffered from migraine without aura, 8 from migraine with aura and 9 from chronic tension-type headache. The study was based on a detailed clinical assessment (psychodynamically-oriented interviews with the child and its parents) and evaluation by tests. A blind test of the clinical personality characteristics was then carried out. The results of these investigations indicated that 13/30 of the subjects had a neurotic personality organization, 12/30 were borderline and 5/30 had a "white relation". Given the subjects' youth, these conditions are probably to be considered transient. From the data collected it seems that migrainous subjects are distributed along a continuum that ranges from one end characterized by more evolved and adaptive mental organization and defence mechanisms and the opposite end, where mental organization is less evolved and adaptive and at a greater risk of somatization.