A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report.

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.

Botulinum Toxin Type A in the Spasticity of Cerebral Palsy Related to Congenital Zika Syndrome: An Observational Study.

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.

The impact of botulinum toxin type A in the treatment of drooling in children with cerebral palsy secondary to Congenital Zika Syndrome: an observational study.

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.

Suicidal behavior in individuals with amyotrophic lateral sclerosis: A systematic review.

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.

KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.

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.

Effect of Anodal tDCS on Articulatory Accuracy, Word Production, and Syllable Repetition in Subjects with Aphasia: A Crossover, Double-Blinded, Sham-Controlled Trial.

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.

Stereoscopic Images from Computed Tomography Angiograms.

OBJECTIVE: To present an adaptation of the anaglyph photography technique to be used with radiological images from computed tomography angiograms, enabling stereoscopic visualization of a patient's individual abnormal vascular anatomy for teaching, case discussion, or surgical planning purposes. METHODS: Traditional anaglyph procedures with actual objects yield 2 independent photographs, simulating the image perceived by each eye. Production of anaglyphs from angiograms involve 3 basic procedures: volume rendering, image capture, and image fusion. Volume renderings were reconstructed using a free, open-source DICOM (Digital Imaging and Communications in Medicine) reader. Subsequently, the virtual object was positioned to mimic the operator's angle of view, and different perspectives of the reconstructed volume could be obtained through exclusively horizontal rotation. The 2 images were then fused after their color composition was modified so that each eye would perceive only 1 image when using anaglyph glasses. RESULTS: Forty-three angiograms were reviewed for the purpose of this study and a total of 6 examinations were selected for illustration of the technique. Stereoscopic display was possible for all of them and in the 3 types of support tested: computer monitor, tablet, and smartphone screens. CONCLUSIONS: Anaglyph display of computed tomography angiograms is an effective and low-cost alternative for the stereoscopic visualization of a patient's individual intracranial vascular anatomy.