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1.
Front Psychiatry ; 14: 1217407, 2023.
Article in English | MEDLINE | ID: mdl-38268562

ABSTRACT

Introduction: Although pharmacological treatment for Attention-Deficit/Hyperactivity Disorder (ADHD) has demonstrated efficacy, several individuals persist in experiencing social and academic impairment. Additionally, the occurrence of significant side effects may render the use of psychotropic medications untenable. However, Transcranial Direct Current Stimulation (tDCS), a non-invasive brain stimulation technique, shows promising results in treating ADHD. Objectives: To investigate the efficacy and safety of tDCS on the performance of children and adolescents with ADHD in neuropsychological tests involving visual attention, visual and verbal working memory, and inhibitory control. Methodology: This study was a triple-blind, randomized, sham-controlled, crossover clinical trial. The intervention consisted of a daily session of tDCS (2 mA) or sham targeting the left dorsolateral prefrontal cortex (L-DLPFC), for 30 min, on five consecutive days. The primary outcome was change in the Visual Attention Test, Fourth Edition (TAVIS-4) before and after each intervention. Subjects were also evaluated pre and post-tDCS using the Digit Span subtest of the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V), the Developmental Neuropsychological Assessment, Second Edition (NEPSY-II) Inhibiting Response (IR) subtest, and the Corsi Block-Tapping Task. Results: Fifteen individuals were included, and no statistically significant difference was observed when comparing the results of the TAVIS-4, the IR of NEPSY-II, and the intragroup Digit Span subtest of WISC-V undertaken before and after the procedure. Adverse events were mainly self-limiting and transient. The participants did not perceive any benefit from tDCS when measured on the Patient Global Impression of Improvement (PGI-I) Scale. Conclusion: This study did not meet its primary endpoint and found no performance enhancement in any investigated neuropsychological outcomes relating to the intervention group.

2.
Cureus ; 14(10): e30486, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36415352

ABSTRACT

Schuurs-Hoeijmakers syndrome, an autosomal dominant disorder associated with mutations in the PACS1 gene, was initially identified in two unrelated children of European descent from a cohort of individuals with intellectual disabilities. This gene alteration significantly reduced cranial cartilaginous structures, inducing craniofacial alterations predominantly in a dominant-negative fashion. In this paper, we report a novel variant of PACS1 associated with Schuurs-Hoeijmakers syndrome: a boy aged two years and nine months of indigenous descent presenting with motor stereotypies, atypical sensory searches, language delay, and low socio-interactional reciprocity. Whole exome sequencing confirmed the presence of a heterozygous missense mutation c.943C>T p. (Arg315Trp) in the PACS1 gene. The phenotypic profile identified was similar to the other cases of Schuurs-Hoeijmakers syndrome described in the literature. This report highlights the importance of considering the possibility of PACS1 gene alterations and a diagnosis of Schuurs-Hoeijmakers syndrome in patients presenting craniofacial alterations associated with autistic features, psychomotor and language development delay.

3.
Dev Neurorehabil ; 25(3): 162-169, 2022 Apr.
Article in English | MEDLINE | ID: mdl-34387523

ABSTRACT

PURPOSE: Investigate the effect of botulinum toxin type-A (BoNT-A) on spasticity and motor performance in children with Cerebral Palsy (CP) related to Congenital Zika Syndrome (CZS). METHODS: Prospective longitudinal observational study of 34 children with CP referred for BoNT-A treatment. Outcomes were evaluated with a muscle tone assessment scale (Modified Ashworth Scale - MAS) and the Patients' Global Impression of Improvement (PGI-I) scale. RESULTS: Mean age was 32.06 ± 3.07 months and 85% were classified as Gross Motor Function Classification System (GMFCS) V. Primitive reflexes were present in 56% of the sample. The majority of the parents (97.9%) reported improvement in range of motion or reduction in spasticity after treatment with botulinum toxin. No side effects were recorded. When compared to the baseline, median reduction in the MAS was 0.5 (IQR = 0). CONCLUSIONS: The findings of this study suggest that BoNT-A may effectively promote functional improvements and reduce muscle tone, improving the child's and family's quality of life.


Subject(s)
Botulinum Toxins, Type A , Cerebral Palsy , Neuromuscular Agents , Zika Virus Infection , Zika Virus , Botulinum Toxins, Type A/therapeutic use , Cerebral Palsy/complications , Cerebral Palsy/drug therapy , Child , Child, Preschool , Humans , Muscle Spasticity/drug therapy , Neuromuscular Agents/therapeutic use , Prospective Studies , Quality of Life , Zika Virus Infection/complications , Zika Virus Infection/drug therapy
4.
Medicine (Baltimore) ; 100(8): e24283, 2021 Feb 26.
Article in English | MEDLINE | ID: mdl-33663047

ABSTRACT

ABSTRACT: Attention-deficit/hyperactivity disorder (ADHD) is characterized by a persistent pattern of inattention and hyperactivity/impulsivity. Despite the proven efficacy of pharmacological treatment, many individuals continue to suffer socially and academically and some experience significant side effects that negate the use psychotropic drugs. Transcranial direct current stimulation (tDCS) is a cortical neuromodulation feature that has shown positive results in the treatment of various neuropsychiatric conditions. OBJECTIVES: To investigate the effect of tDCS on the performance of children and adolescents with ADHD in the neuropsychological tests of visual attention, verbal, and inhibitory control. METHODOLOGY: Triple blind, randomized, sham-controlled, cross-over trial involving tDCS in children and adolescents with ADHD. Initial screening will be performed using Swanson, Nolan, and Pelham - IVand Wechsler intelligence scale for children fourth edition vocabulary and cube subtests. Individuals will be evaluated pre-tDCS and post-tDCS with the Wechsler intelligence scale for children fourth edition Digitus subtest, neuropsychological assessment battery second edition inhibiting responses subtest, Corsi cubes, and visual attention test-4.


Subject(s)
Attention Deficit Disorder with Hyperactivity/therapy , Transcranial Direct Current Stimulation/methods , Adolescent , Attention , Child , Cross-Over Studies , Female , Humans , Male , Neuropsychological Tests , Wechsler Scales
5.
Neurol Res ; 43(1): 54-60, 2021 Jan.
Article in English | MEDLINE | ID: mdl-32915712

ABSTRACT

OBJECTIVE: The main aim of this study was to determine the impact of botulinum toxin A (BTX-A) on severity and frequency of drooling in children with Cerebral Palsy (CP) secondary to Congenital Zika Syndrome (CZS). METHODS: This is a prospective longitudinal observational study including 23 children who received bilateral injections of BTX in the parotid and submandibular glands. The Thomas-Stonell & Greenberg Drooling Severity and Frequency Scale was applied by a multidisciplinary team including Speech, Language and Hearing professionals. The Global Impression of Improvement (GII) Scale was also applied to assess parents' subjective perceptions of therapeutic response. Swallowing was assessed using Doppler ultrasonography. Univariate logistic regression was used to analyse differences between responders and non-responders. RESULTS: Participant age varied from 27 to 38 months (mean 31.78, SD = 2.61) all presented with Gross Motor Function Classification System (GMFCS) V. Drooling Severity and Frequency Scale scores ranged from 7 to 9 points (median = 9) prior to BTX administration and from 4 to 6 (median = 6) after. Pre- and post-treatment reduction in drooling severity occurred (Z = -3.746; p < 0.001). No cases of drooling worsening were reported. Only two subjects presented adverse effects attributed to BTX administration. Correlation was only confirmed with GII. DISCUSSION: This article presents the safe and positive impact of BTX-A administration guided by anatomical references described in the literature, even on children with microcephaly. Further studies are needed to facilitate the use of Doppler ultrasonography as a tool to characterize changes in sensory processing and motor response following intraoral input in children with CP.


Subject(s)
Botulinum Toxins, Type A/therapeutic use , Cerebral Palsy/complications , Neuromuscular Agents/therapeutic use , Sialorrhea/drug therapy , Zika Virus Infection/complications , Child, Preschool , Female , Humans , Longitudinal Studies , Male , Prospective Studies
6.
J Affect Disord ; 277: 688-696, 2020 12 01.
Article in English | MEDLINE | ID: mdl-32911219

ABSTRACT

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) leads to a drastic reduction in quality of life, generating intense psychological distress and predisposing those affected to mental illness and, in more severe cases, suicidal behavior. OBJECTIVE: This is a systematic review aiming to estimate the frequency of wish to die, suicide ideation and suicide in individuals with ALS using the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P). METHODS: The following databases were used: Pubmed/MEDLINE, PsycINFO, Embase, SciELO, Biblioteca Virtual de Saúde (BVS), and Cochrane Library. The choice of appropriate descriptors, or their equivalents, to define the search terms was based on the technical and scientific vocabulary of each database. RESULTS: 13 articles were included in the present systematic review, of which three were cross-sectional studies, nine were cohort-type and there was one case-control study. The studies show that individuals with ALS have a higher risk of suicide in relation to the general population, and there is evidence that this risk is even higher in the early stages of the disease. Major Depressive Disorder was the most prevalent mental disorder in the studies included. This mental health concern is often undertreated, leading to the increased susceptibility of this population to suicide. LIMITATIONS: In general, the study samples represent a highly heterogeneous population while many instruments used in the data collection were not uniform. CONCLUSIONS: The high degree of psychological vulnerability of this population, associated with a greater predisposition to suicidal behavior, should be minimized through public health measures.


Subject(s)
Amyotrophic Lateral Sclerosis , Depressive Disorder, Major , Case-Control Studies , Cross-Sectional Studies , Humans , Meta-Analysis as Topic , Quality of Life , Suicidal Ideation , Suicide, Attempted
7.
Am J Med Genet A ; 182(4): 762-767, 2020 04.
Article in English | MEDLINE | ID: mdl-31999056

ABSTRACT

Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9-year-old boy from Kansas City. We report a case of KPTN-related syndrome in a 5-year-old child which presented macrocephaly, muscular hypotonia, and global development delay. The neurological examination revealed below-expected performance in coordination and balance tests, dyspraxia, and hand-mouth synkinesia. Expressive language was characterized by phono-articulatory imprecision, abundance of phonological processes and morphosyntactic immaturity. Neuropsychological assessment revealed intellectual disability with impairment of verbal and executive functions. Exome sequencing was performed. Analysis revealed a homozygous 2-nucleotide duplication c.597_598dup p.(Ser200Ilefs*55) in the KPTN gene, which is predicted to lead to a translational frameshift and formation of a premature stop codon. The phenotypic profile is similar to the cases described in the other families. Presence of macrocephaly and delayed development indicate the possibility of KPTN gene variation. Genetic testing should be carried out at an early stage in order to reach a timely diagnosis.


Subject(s)
Developmental Disabilities/pathology , Homozygote , Intellectual Disability/pathology , Megalencephaly/pathology , Microfilament Proteins/genetics , Muscle Hypotonia/pathology , Mutation , Brazil , Child, Preschool , Developmental Disabilities/genetics , Female , Humans , Intellectual Disability/genetics , Megalencephaly/genetics , Muscle Hypotonia/genetics , Phenotype , Syndrome
8.
Neurol Ther ; 8(2): 411-424, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31432434

ABSTRACT

INTRODUCTION: Transcranial direct-current stimulation (tDCS) has been used to modulate and induce changes in brain function and excitability. tDCS is a promising tool for the treatment of aphasia. OBJECTIVE: To evaluate whether tDCS improves articulatory accuracy and speech production in patients with aphasia after stroke. METHODS AND RESULTS: Twelve right-handed subjects participated in a double-blind, sham-controlled, crossover offline trial. We assessed (1) articulatory accuracy at a naming task, (2) number of words correctly produced, (3) number of syllables repeated correctly, and (4) qualitative assessment of speech. Articulatory accuracy improved when using tDCS over Broca's area in subjects with aphasia post-stroke (p ≤ 0.05). Qualitative improvement in the naming and syllable repetition tasks was observed, but the difference was not statistically significant (respectively, p = 0.15 and p = 0.79). CONCLUSION: The current results corroborate the potential of tDCS to be used as an alternative and complementary treatment for individuals with aphasia.

9.
Pain Manag ; 9(1): 93-106, 2019 Jan 01.
Article in English | MEDLINE | ID: mdl-30516441

ABSTRACT

Opioid misuse leading to dependence is a major health issue. Recent studies explored valid alternatives to treat pain in postsurgical settings. This systematic review aims to discuss the role of transcranial direct current stimulation (tDCS) in preventing and treating postoperative pain and opioid dependence. PubMed and Embase databases were screened, considering studies testing tDCS effects on pain and opioid consumption in surgical settings and opioid addiction. Eight studies met our inclusion criteria. Results showed a reduction of postoperative pain, opioid consumption and cue-induced craving following cortical stimulation. Despite the limited number of studies, this review shows preliminary encouraging evidence regarding the analgesic role of tDCS. However, future studies are needed to further investigate the application of tDCS in postsurgical settings.


Subject(s)
Opioid-Related Disorders/therapy , Pain, Postoperative/therapy , Transcranial Direct Current Stimulation/methods , Humans , Opioid-Related Disorders/prevention & control , Pain, Postoperative/prevention & control
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