The impact of ADHD on reading Sánchez-Carmona, Alberto J; Albert, Jacobo; López-Martín, Sara ...
Medicina,
04/2023, Volume:
83 Suppl 2
Journal Article
Peer reviewed
Beyond the frequent coexistence of attention deficit hyperactivity disorder (ADHD) and reading disorder (dyslexia), the present review aims to examine the available empirical evidence on how ADHD ...negatively impacts on learning to read. Existing data suggest that the presence of the disorder (especially inattention symptoms), may affect i) the correct acquisition of reading, either directly or through its influence on the precursors to reading; ii) decoding skills themselves (reading accuracy and fluency), both directly and indirectly through its influence on cognitive processes such as distractibility or executive functions; and iii) reading comprehension, probably indirectly through the executive and verbal memory difficulties characteristic of ADHD. These findings have important implications for better characterizing and intervening on reading difficulties in ADHD, whether clinical or subclinical.
Abstract We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia. Whole exome sequencing revealed compound ...heterozygous BRAT1 mutations c.1564G > A (p.Glu522Lys) and c.638dup (p.Val214Glyfs*189). Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498) . The seven previously described patients suffered from uncontrolled seizures, and all of those patients died in their first months of life. BRAT1 acts as a regulator of cellular proliferation and migration and is required for mitochondrial function. The loss of these functions may explain the cerebral atrophy observed in this case of PE. This case highlights the extraordinary potential of next generation technologies for the diagnosis of rare genetic diseases, including PE. Making a prompt diagnosis of PE is important for genetic counseling and disease management.
Abstract Several lines of evidence suggest that the dopamine transporter gene (DAT1) plays a crucial role in attention deficit hyperactivity disorder (ADHD). Concretely, recent data indicate that the ...10-repeat (10R) DAT1 allele may mediate neuropsychological functioning, response to methylphenidate, and even brain function and structure in children with ADHD. This study aimed to investigate the influence of 10R DAT1 on thickness of the prefrontal cortex in children and adolescents with ADHD. To this end, brain magnetic resonance images were acquired from 33 patients with homozygosity for the 10R allele and 30 patients with a single copy or no copy of the allele. The prefrontal cortex of each MRI scan was automatically parceled into regions of interest (ROIs) based on Brodmann areas (BA). The two groups were matched for age, gender, IQ, ADHD subtype, symptom severity, comorbidity and medication status. However, patients with two copies of the 10R allele exhibited significantly decreased cortical thickness in right BA 46 relative to patients with one or fewer copies of the allele. No other prefrontal ROI differed significantly between the two groups. Present findings suggest that cortical thickness of right lateral prefrontal cortex (BA 46) is influenced by the presence of the DAT1 10 repeat allele in children and adolescents with ADHD.
Objective: This study aimed to examine the influence of dopamine transporter gene (DAT1) 3’UTR genotype on cingulate cortical thickness in a large sample of children and adolescents with ADHD. ...Method: Brain MRIs were acquired from 46 ADHD patients with homozygosity for the 10-repeat allele and 52 ADHD patients with a single copy or no copy of the allele. The cingulate cortex of each MRI scan was automatically parceled into sulci and gyri as well as into Brodmann areas (BA). Results: There were no group differences in age, gender, full-scale intelligence quotient, symptom severity, treatment status, comorbidity, or mean overall cortical thickness. Sulcus/gyrus- and BA-based analyses revealed that patients homozygous for the 10-repeat allele showed significantly greater thickness in right cingulate gyrus and right BA 24 compared with 9-repeat carriers. Conclusion: These findings suggest that thickness of cingulate cortex is influenced by the presence of the 10-repeat allele in ADHD.
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.
Objective: Atomoxetine’s tolerance and efficacy were studied in 24 patients with pervasive developmental disorder and symptoms of ADHD. Method: Prospective, open-label, 16-week study was performed, ...using the variables of the Clinical Global Impression Scale and the Conners’ Scale, among others. Results: A significant difference was found between pre- and posttreatment scores as well as a significant reduction was found on the scales used. Only five patients presented adverse events. Conclusion: Atomoxetine therefore appears to be a useful drug, pointing to the need for larger, randomized, controlled, double-blind studies to confirm its efficacy versus placebo and in comparison with other treatment options.
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.
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