Simonetta Gentile

Executive and intellectual functions in attention-deficit/hyperactivity disorder with and without comorbidity.

BACKGROUND Recent neuropsychological theories have targeted deficient executive functions (EF) as the main characteristic of Attention Deficit Hyperactivity Disorder (ADHD), but the nature of the neuropsychological deficits remains elusive and findings are heterogeneous. In particular, it is still unclear whether ADHD subtypes and comorbidity affect intellectual and executive functioning, because large variability has been found in different patient populations. Furthermore, the role of IQ in EF deficits in individuals with ADHD has been debated. METHODS The aim of the present research was to study in detail the relationship between EF, ADHD subtypes, and comorbid diagnosis by taking into account the potential role of IQ. For this purpose, 23 children (aged from 5 to 16 years; 20 males and 3 females) with a diagnosis of ADHD were selected. RESULTS Data show no differences between children with different subtypes of ADHD on measures of EF, but they evidence differences on EF measures in children with different comorbidities (internalizing versus externalizing disorder). Namely, compared to the internalizing disorders group, the children with externalizing disorders obtained significantly lower scores on different measures of EF (i.e., verbal working memory and categorical fluency), but these differences were strictly dependent on IQ level. CONCLUSIONS Comorbidity patterns, rather than ADHD subtypes, appear to be more valid for defining the neuropsychological features of the ADHD endophenotype. Moreover, general intelligence seems to play a substantial role in the cognitive processes underling the disorder, especially in relation to externalizing aspects.

Migraine equivalents as part of migraine syndrome in childhood

BACKGROUND Migraine equivalents are common clinical conditions without a headache component, occurring as repeated episodes with complete remission between episodes. They include abdominal migraine, cyclical vomiting, benign paroxysmal vertigo, and benign paroxysmal torticollis. Other clinical entities, such as motion sickness and limb pain have been associated with migraine. We aimed to investigate the prevalence of migraine equivalents in a large population of children referred to a pediatric headache center and to analyze the possible relationship between migraine equivalents and headache features. METHODS A total of 1134 of children/adolescents (73.2% with migraine and 26.8% with tension-type headache) were included. Patients were divided into two groups according to the episode frequency (high and low). Pain intensity was rated on a three-level graduate scale (mild, moderate, and severe pain). RESULTS Migraine equivalents were reported in 70.3% of patients. Abdominal migraine (48.9%), limb pain (43.9%), and motion sickness (40.5%) were the most common migraine equivalents. Although headache type (migraine or tension-type headache) did not correlate with migraine equivalents presence (χ(2) = 33.2; P = 0.27), high frequency of headache episodes correlated with the occurrence of migraine equivalents. Moreover, migraine equivalents indicated a protective role for some accompanying feature of the headache episode. CONCLUSIONS Our results suggest that migraine equivalents should not be considered merely as headache precursors, but they as part of the migrainous syndrome. Thus, their inclusion among the diagnostic criteria for pediatric migraine/tension-type headache is useful.

Childhood refractory focal epilepsy following acute febrile encephalopathy

Background:  We describe a group of previously normal children who developed severe focal epilepsy after an acute/sub‐acute illness resembling encephalitis.

Cognitive development in females with PCDH19 gene-related epilepsy

Mutations in the PCDH19 gene are now recognized to cause epilepsy in females and are claiming increasing interest in the scientific world. Clinical features and seizure semiology have been described as heterogeneous. Intellectual disability might be present, ranging from mild to severe; behavioral and psychiatric problems are a common feature of the disorder, including aggressiveness, depressed mood, and psychotic traits. The purpose of our study was to describe the cognitive development in 11 girls with a de novo mutation in PCDH19 and early-onset epilepsy. Six patients had average mental development or mild intellectual disability regardless of persistence of seizures in clusters. Five patients presented moderate or severe intellectual disability and autistic features. In younger patients, we found that despite an average developmental quotient, they all presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages, underlining that subtle dysfunctions might be present. Larger cohort and long-term follow-up might be useful in defining cognitive features and in improving the care of patients with PCDH19.

Factors affecting short-term neurodevelopmental outcome in children operated on for major congenital anomalies

PURPOSE Identify clinical and socio-demographic risk-factors affecting short-term neurodevelopmental outcome (NDO) in children operated on for abdominal and thoracic congenital anomalies (CA). METHODS Prospective cohort observational study on newborns operated on for non-cardiac major CA. Evaluations were conducted at 6 and 12 months of age. Univariate linear regression and multivariate regression were conducted to analyze the impact on NDO of clinical and sociodemographic variables. Infants were evaluated with the Bayley Scales of Infant and Toddler Development-3rd Edition. RESULTS One-hundred-fifty-five children were enrolled. They were affected by the following anomalies: Esophageal Atresia (N=41), Congenital Diaphragmatic Hernia (N=42), Midgut Malformations (N=34), Abdominal Wall Defects (N=18), Colorectal Malformations (N=20). There were no statistically significant differences among the five groups of CA as to NDO. Variables which reached statistical significance at multivariate regression (p≤0.001) at 6 and 12 months as to cognitive and motor development were: ventilatory time, associated malformations, medical appliances for feeding, number of surgery and length of hospital stay. CONCLUSIONS On the average, children born with CA show a NDO within normal range. The identified risk-factors could prompt health care professionals to conduct a close surveillance on most vulnerable children giving them the best chance to reach their full potential.

Adaptive functioning in children in the first six months after surgery for brain tumours

Purpose. To examine the adaptive functioning of children who underwent surgery for brain tumours with a view to analyse the related acute impairments and to describe their short-term outcome. Method. We investigated adaptive functioning in 25 children (ranging from 2 to 18 years of age) for 40 days and again 3 and 6 months after they underwent surgery for various brain tumours. The Vineland Adaptive Behaviour Scales (VABS) were used to assess their adaptive functioning, considering the four main domains and all the subdomains. Results. The results remained stable over the follow-up period considered. The domain in which the scores were most severely affected was Daily Living, followed by the Socialisation and Communication domains. Within the Communication domain, the abilities investigated in the Receptive subdomain revealed the worst impairments. Within the Daily Living domain, impairments were most evident in the childrens capacity to take care of themselves and handle domestic activities. In the Socialisation domain, Play and Leisure Time, and Interpersonal Relationships were the subdomains most severely impaired. Conclusions. These findings are relevant because identifying childrens adaptive functioning difficulties sooner could help their rehabilitation to be tailored and thus have a positive fallout on their long-term outcome.

Migraine equivalents and related symptoms, psychological profile and headache features: Which relationship?

BackgroundMigraine equivalents are common clinical conditions in children suffering from headache. Very few studies dealt with the psychological profile of children/adolescents with migraine equivalents. Our main aim was to compare the psychological profile between migraine children with and without migraine equivalents. Moreover, as secondary aim, exclusively in children with migraine equivalents, we investigated the possible relationship between migraine attack frequency and intensity and psychological factors.MethodsWe enrolled 136 young migraineurs. They were divided in two groups (patients with and without migraine equivalents). The psychological profile was assessed by means of SAFA Anxiety and Somatization questionnaires.ResultsMigraine equivalents were present in 101 patients (74.3 %). Anxiety (p = 0.024) and somatization (p = 0.001) levels, but not hypochondria (p = 0.26), were higher in patients with migraine equivalents. In children with migraine equivalents, a low frequency of attacks was related to separation anxiety (p = 0.034).ConclusionsMigraine equivalents patients tend to feel more fearful and to experience more shyness. This, together with the tendency to somatization, may lead them to become vigilant in attachment relationships with their caregivers.

Role of the Attachment Style in Determining the Association Between Headache Features and Psychological Symptoms in Migraine Children and Adolescents. An Analytical Observational Case–Control Study

We aimed to study the role of attachment style on headache severity and psychological symptoms in migraineurs children/adolescents. Moreover, we investigated the association between attachment style, migraine severity, and psychological symptoms.

Parental Perception of Emotional Problems in Children and Adolescents withMixed Specific Developmental Disorder

This study examined the emotional and behavioral problems of children with Mixed Specific Developmental Disorders (MSDD) as reported by their parents (main caregiver). Forty-four children with MSDD (43% males and 57% females, mean age 10.55 yrs, SD 2.85) attending the Bambino Gesu Children’s Hospital health clinics and their parents participated in the study. They were compared with children affected by specific learning disabilities (SLD) (61 children: 56% males and 44% females, mean age 10.92 yrs, SD 2.59). Measurements included the Child Behavior Checklist (CBCL) and detailed cognitive and learning assessment. CBCL T scores indicated that 57% of the children with MSDD and 36% of those with SLD had an internalizing mental health problem (p <0.05), particularly as regard the withdrawn/depressed scale (61% MSDD versus 57% SLD, p<0.05), thought problems (59% versus 55%, p<0.01) and attention problems (64% versus 60%, p<0.05). Thus, MSDD children appeared to have a greater incidence of psychopathological traits than SLD children. In clinical settings, the assessment of learning disabilities in children with MSDD should include both cognitive and learning abilities, as well as psychological/mental health aspects.

Alexithymia in parents and adolescents with generalised anxiety disorder

Background The relationship between generalised anxiety disorder (GAD) and alexithymia has been poorly studied in adolescents. The present study examined the alexithymia levels in adolescents with GAD and their parents compared with healthy control participants (adolescents and their parents). Method The sample included 300 participants: 50 adolescents with GAD and 50 healthy adolescents, 13–18 years of age, and their 200 parents (100 mothers and 100 fathers). The Schedule for Affective Disorders and Schizophrenia for School-Age Children was performed to evaluate adolescents’ mental health while the 20-item Toronto Alexithymia Scale was performed to assess alexithymia levels in both adolescents and their parents. Results Adolescents with GAD showed a significantly higher rate of alexithymia when compared with control adolescents. The mothers of adolescents with GAD showed an alexithymia score higher than did the controls’ mothers. The fathers of the two groups showed no differences of in their rate of alexithymia. Moreover, in the clinical sample, adolescent and maternal alexithymia scores were not correlated, while significant directed correlations were found between these adolescents and their own fathers. Conclusions Our findings show an association between GAD and alexithymia in adolescents. A significant presence of alexithymic traits in the mothers of the patients with GAD was shown. An intergenerational transmission of alexithymia could be supposed but this cannot be a linear mechanism. The assessment of alexithymia in adolescents with psychological disorders, and in their parents, could be useful to plan a more targeted therapeutic approach.