Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, ...associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and nonachievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.
The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of ...diagnostic suspicion based on fetal MRI. We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right microphthalmia, leading to the suspicion of PHACE syndrome. The diagnosis was confirmed at birth, together with other criteria: facial hemangioma, absent posterior inferior cerebellar artery, and dysplasia of the right internal carotid artery. To our knowledge, this is the first live case described prenatally with both ocular and cerebellar findings on fetal MRI that suggest PHACE syndrome. The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations.
Case report
We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This ...deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important role in CS.
Conclusions
Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomic hybridization (array CGH) should be considered as a first-line test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.
Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result of a malformation of the frontonasal ...elevation. It could occur either in isolation or as part of a syndrome such as frontonasal dysplasia associated with periventricular heterotopia. Our goal is to document the first clinical case of prenatal diagnosis for frontonasal dysplasia associated with periventricular heterotopia by fetal magnetic resonance imaging (MRI) at weeks 19.5 and 29 and postnatal MRI. In conclusion, the presence of frontonasal dysplasia in a prenatal ultrasonography should always be followed by a fetal MRI with routine screening for periventricular nodular heterotopias so as to establish a more adequate prognosis for the family.
Attention Deficit Hyperactivity Disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood, which is frequently maintained in adolescent and adult age. It presents great ...clinical heterogeneity, significantly affecting the functioning of those who suffer it. Although drug treatments obtain results by themselves, the approach should be multidisciplinary and be adapted to the specific needs of each patient and his/ her family. Given the variety of drugs currently available to treat ADHD, there are diverse opinions on the most effective way to approach this disorder. The objective of this work is to study the opinion of an expert clinical panel and to know the professional criteria used to define key concepts and therapeutic guidelines of ADHD in Spain.
The project was carried out in four phases: 1) Constitution of a Scientific Committee, responsible for the preliminary biographic review and the formulation of the questionnaire; 2) selection of an expert panel of specialists with special interest and/or experience in the treatment of ADHD; 3) Likert type structured survey (online platform) in two rounds with interim processing of opinions; and 4) collection and final analysis of results.
The experts' panel achieved a consensus in 55 of the 58 items making up the questionnaire, finding 3 items in which sufficient unanimity of criteria was not achieved because of the high number of experts were found in positions of non-certainty.
Overall, the experts of this study reached a high level of agreement in the criteria proposed in the survey, which could be generalized as indications for the clinical practice in the management of ADHD. Similarly, and given the dispersion of the results in some of the items and the lack of consensus in others, some points remain as object of discussion.
The study objective was to assess the efficacy and tolerability of atomoxetine in the treatment of attention deficit hyperactivity disorder symptoms in patients with mental retardation. In a 16-week, ...open-label, prospective study, 48 children with mental retardation and attention deficit hyperactivity disorder were recruited; the patients received atomoxetine, with a single final dose of 1.2 mg/kg per day reached at 3 weeks. The measure of efficacy was scores on Clinical Global Impression Severity scale (CGI-S), Conners, and Attention Deficit Hyperactivity Disorder Rating Scale ADHDRS-IV. A statistically significant difference was documented between the mean CGI-S scores before and after treatment: baseline CGI-S = 5.31 (S.D. = 0.85); post-treatment CGI-S = 4.13 (S.D. = 0.97), with a difference of 1.18 points (S.D. = 0.84) and a 95% confidence interval for the difference of 0.92-1.43 ( P < 0.001). A statistically significant reduction ( P < 0.01) was observed with respect to all the variables of the ADHDRS-IV and Conners scales. Slightly less than one third of the patients (31%) presented adverse events, the majority of which were mild, with irritability being the most frequent event. Atomoxetine appears to be to useful in improving attention deficit hyperactivity disorder symptoms in mentally retarded patients. Larger, randomized, controlled, double-blind studies are required to confirm the efficacy observed in this first study.
Introduction: The aim was to investigate bilateral, wide-spread pressure pain hyperalgesia in symptomatic (trigeminocervical) and non-symptomatic (pain-free distant) regions in children with frequent ...episodic tension-type headache (FETTH).
Methods: Twenty-five children, 6 boys and 19 girls (mean age, 8.9 ± 1.8 years) with FETTH and 50 age- and sex-matched healthy children (12 boys, 38 girls; mean age: 8.8 ± 1.7 years) were recruited. Pressure pain thresholds (PPTs) were bilaterally assessed over temporalis muscle, upper trapezius muscle, second metacarpal and tibialis anterior muscles in a blinded design.
Results: The results showed that PPT levels were significantly decreased bilaterally over the temporalis, upper trapezius and tibialis muscles, and the second metacarpal in children with FETTH as compared to controls (all sites, P < 0.001). No significant differences in the magnitude of PPT decrease between the upper trapezius muscle, second metacarpal and tibialis anterior muscles were found. PPT over both upper trapezius muscles were negatively correlated with the history and intensity of headache (rs = −0.415; P = 0.045).
Conclusions: The findings revealed bilateral, wide-spread pressure pain hypersensitivity in children with FETTH suggesting that wide-spread central sensitisation is involved in children with this headache pain condition.
The objective of this study was to analyze the presence of generalized pressure pain hypersensitivity over nerve tissues in trigeminal and nontrigeminal regions in children with frequent episodic ...tension-type headache (FETTH).
Thirty children, 7 boys and 23 girls (mean age: 8.8 +/- 1.7 years) with FETTH and 50 age- and gender-matched healthy children (14 boys, 36 girls; mean age: 8.5 +/- 2.1 years; P = .743) were recruited. Pressure pain thresholds (PPTs) were bilaterally assessed over supra-orbital (V1), infra-orbital (V2), mental (V3), median (C5), radial (C6), and ulnar (C7) nerves by an assessor who was blinded to the patient's condition.
The analysis of variance showed that PPT levels were significantly bilaterally decreased over both trigeminal (supra-orbital, infra-orbital, and mental) and nontrigeminal (median, ulnar, and radial) nerves in children with FETTH as compared with control subjects (all sites, P < .001). There was a greater magnitude of PPT decrease within trigeminal nerves as compared with nontrigeminal nerves (P < .03). PPTs over infra-orbital (r(s) = -0.4, P < .05) and radial (r(s) = -0.5, P < .01) nerves were negatively correlated with the duration of headache attacks (P < .05).
Our study revealed bilateral and generalized pressure hypersensitivity over both trigeminal and nontrigeminal nerves in children with FETTH. Diffuse hypersensitivity of peripheral nerves evidences the presence of hyperexcitability of the central nervous system in children with FETTH.
Much attention has been paid in recent years to the role of prenatal exposure to alcohol. Fetal alcohol syndrome is one of the most severe afflictions resulting from such exposure. The present report ...documents the cases of adopted children diagnosed with fetal alcohol syndrome who developed both Tourette syndrome and attention deficit-hyperactivity disorder. Out of a population of 138 adopted children with behavior issues whose clinical histories were reviewed retrospectively, 9 children (6.5%) presented this constellation. Epidemiologic data, clinical data, neurologic examination findings, complementary testing, and developmental data were recorded. All nine patients studied had initial psychomotor retardation, despite the frequent case of subsequent intelligence quotient normalization. From a behavioral perspective, half of the cases presented obsessive-compulsive disorder and problems with social relations. Aggressive behavior was common. These cases also presented a high degree of severity of both tics and hyperactivity. The most common drug treatment was methylphenidate. This constellation of fetal alcohol syndrome, Tourette syndrome, and attention deficit-hyperactivity disorder is scantly reported in the literature and is likely underdiagnosed. This particular constellation poses its own prognosis and requires its own treatment.