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Neurocase Feb 2024We report on a patient with delayed post-hypoxic leukoencephalopathy (DPHL) who showed akinetic mutism and gait disturbance, neural injuries that were demonstrated on...
We report on a patient with delayed post-hypoxic leukoencephalopathy (DPHL) who showed akinetic mutism and gait disturbance, neural injuries that were demonstrated on diffusion tensor tractography (DTT). A patient was exposed to carbon monoxide (CO) and rapidly recovered; however, two weeks after onset, he began to show cognitive impairment and gait disturbance. At six weeks after CO exposure, he showed akinetic mutism and gait inability. DTT at 6-weeks post-exposure showed discontinuations in neural connectivities of the caudate nucleus to the medial prefrontal and orbitofrontal cortex in both hemispheres. In addition, the corticoreticulospinal tract revealed severe thinning in both hemispheres.
Topics: Humans; Akinetic Mutism; Male; Leukoencephalopathies; Gait Disorders, Neurologic; Diffusion Tensor Imaging; Hypoxia, Brain; Middle Aged; Adult
PubMed: 38725351
DOI: 10.1080/13554794.2024.2353125 -
Twin Research and Human Genetics : the... May 2024An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins'...
Twins Standing in for Co-Twins: Explanation and Speculation/Twin Research Reviews: Single v. Multiple Embryo Transfer; Neurimaging of Twins with Periventricular Nodular Heterotopia; Twin Dietary Study; New Hungarian Text on Twins/Human Interest: Valedictorian and Salutatorian Twins; Twin Mother at...
An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins' willingness to do so in certain situations. This section is followed by reviews of timely twin research, namely single versus multiple embryo transfer; neurimaging of twins with periventricular nodular heterotopia; a twin dietary comparison; and a new book of twin-related readings from Hungary. The final portion of this article concerns human interest stories that both inform and entertain. They involve valedictorian and salutatorian twins; a mother delivering twins at age seventy; twins reunited by TikTok; a new film about twins with selective mutism; and twins becoming doctors.
PubMed: 38738462
DOI: 10.1017/thg.2024.22 -
European Child & Adolescent Psychiatry Nov 2023Some long-term outcomes for participants with selective mutism (SM) are elevated rates of phobic disorders, particularly social phobia, persistent communicative...
Some long-term outcomes for participants with selective mutism (SM) are elevated rates of phobic disorders, particularly social phobia, persistent communicative problems, and reduced self-esteem. However, data on the long-term outcomes of SM are scarce. In this study, by analyzing interpersonal anxiety, communication skills, and self-esteem among those who experienced SM and felt cured (SM-C-group: 30 females, 6 males, mean age 28.0, SD = 7.42, range 19-47 years), those who experienced SM and did not feel cured (SM-NC-group: 37 females, 4 males, mean age 27.4, SD = 7.24, age range 19-50 years), and those who had not experienced SM (Non-SM-group: 30 females, 30 males, mean age 26.4, SD = 7.62, age range: 20-48 years), we examined the long-term outcomes of SM and the factors that influence the feeling of being cured of SM. Results showed that the SM-C-group and SM-NC-groups had significantly higher interpersonal anxiety and significantly lower communication skills than the Non-SM-group. Moreover, the SM-C-group showed significantly lower interpersonal anxiety and significantly higher communication skills than the SM-NC-group. However, while there was no significant difference in self-esteem between the SM-C and SM-NCgroups, there was a significant difference between the SM-NC and Non-SM groups. The SM-C and SM-NC groups did not differ on the retrospective symptom load (SMQ-J), but did on the Current level of difficulty with speaking. The results of the logistic regression analysis predicted that communication skills and self-esteem did not influence the feeling of being cured of SM, but interpersonal anxiety and Current level of difficulty to speak did. Therefore, it is speculated that the intensity of this interpersonal anxiety and whether people with SM still felt difficulty in talking to others may have affected the feeling of being cured from SM.
Topics: Male; Female; Humans; Young Adult; Adult; Middle Aged; Mutism; Retrospective Studies; Anxiety Disorders; Phobic Disorders; Anxiety
PubMed: 35984502
DOI: 10.1007/s00787-022-02055-x -
Children (Basel, Switzerland) Jun 2024Selective mutism (SM) is an anxiety disorder that is characterized by a child's persistent inability to communicate verbally in some or all contexts of social life. It...
Selective mutism (SM) is an anxiety disorder that is characterized by a child's persistent inability to communicate verbally in some or all contexts of social life. It is often associated with other cognitive-affective disorders. Performing cognitive-behavioral assessments and psychological interventions can be challenging due to the difficulty in administering standardized neuropsychological tests and involving family and teachers in the intervention program. In a single case study, a young Filipina girl with SM underwent a comprehensive neuropsychological assessment and received multimodal therapeutic intervention between the ages of 7 and 11. The psychological intervention included cognitive-behavioral psychotherapy to improve social-cognitive skills and learning abilities, reduce anxiety, and provide speech therapy. The parents and teachers were actively involved in the therapeutic process and a underwent a psycho-education program. Following this treatment, at the age of 11, the girl started verbalizing in therapy and school contexts, although she still used non-verbal strategies. There was also a gradual improvement in her communicative-linguistic skills and school learning. In conclusion, this report emphasizes the importance of applying an integrated and multimodal intervention to treat SM in children, including psychoeducation for parents and teachers.
PubMed: 38929325
DOI: 10.3390/children11060746 -
Neurological Sciences : Official... Aug 2023
Topics: Humans; Tacrolimus; Akinetic Mutism; Dysarthria; Liver Transplantation; Immunosuppressive Agents
PubMed: 36949300
DOI: 10.1007/s10072-023-06760-6 -
Audiology Research Jan 2024If the term "genetics" is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific... (Review)
Review
If the term "genetics" is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific community Mendel's principles of inheritance, since the dawn of human civilization the influence of heredity has been recognized, especially in agricultural crops and animal breeding. And, later, in familial dynasties. In this concise review, we outline the evolution of the idea of hereditary hearing loss, up to the current knowledge of molecular genetics and epigenetics.
PubMed: 38391767
DOI: 10.3390/audiolres14010010 -
Deutsches Arzteblatt International Mar 2024Approximately 9.9 % of children present with difficulties in language development (DLD), 7.6 % without serious additional impairments and 2.3 % associated with...
BACKGROUND
Approximately 9.9 % of children present with difficulties in language development (DLD), 7.6 % without serious additional impairments and 2.3 % associated with languagerelevant comorbidities, e.g., hearing loss. Notably, in a consensus statement by experts in German-speaking countries, in the guideline presented here, and further in this article, all of these disorders are referred to as "developmental language disorders" (DLD), whereas the international consortium CATALISE only refers to those without comorbidities as DLD. DLDs are among the most commonly treated childhood disorders and, if persistent, often reduce educational and socio-economic outcome. Children in their third year of life with developmental language delay (late talkers, LT) are at risk of a later DLD.
METHODS
This German interdisciplinary clinical practice guideline reflects current knowledge regarding evidence-based interventions for developmental language delay and disorders. A systematic literature review was conducted on the effectiveness of interventions for DLD.
RESULTS
The guideline recommends parent training (Hedges g = 0.38 to 0.82) for LTs with expressive language delay, language therapy (Cohen's d = -0.20 to 0.90) for LTs with additional receptive language delay or further DLD risk factors, phonological or integrated phonological treatment methods (Cohen's d = 0.89 to 1.04) for phonological speech sound disorders (SSDs), a motor approach for isolated phonetic SSDs (non-DLD), and for lexical-semantic and morpho-syntactic impairments combinations of implicit and explicit intervention approaches (including input enrichment, modeling techniques, elicitation methods, creation of production opportunities, metalinguistic- approaches, visualizations; Cohen's d = 0.89-1.04). Recom mendations were also made for DLD associated with pragmatic-communicative impairment, bi-/ multilingualism, hearing loss, intellectual disability, autism-spectrum disorders, selective mutism, language- relevant syndromes or multiple disabilities, and for intensive inpatient language rehabilitation.
CONCLUSION
Early parent- and child-centered speech and language intervention implementing evidence-based intervention approaches, frequency, and settings, combined with educational language support, can improve the effectiveness of management of developmental language delay and disorders.
Topics: Humans; Language Development Disorders; Germany; Language Therapy; Child, Preschool; Child; Male; Female; Practice Guidelines as Topic
PubMed: 38377329
DOI: 10.3238/arztebl.m2024.0004 -
Pediatric Reports Oct 2023Selective mutism (SM) is a rare childhood anxiety disorder which may be markedly detrimental to a child's academic and social functioning if left untreated....
Selective mutism (SM) is a rare childhood anxiety disorder which may be markedly detrimental to a child's academic and social functioning if left untreated. Cognitive-behavioral treatments for social anxiety disorders have been found to be effective for SM, yet a paucity of published studies have explored manualized treatment approaches carried out by novice clinicians. The purpose of the present study was to examine the adherence, effectiveness, and acceptability of a condensed, 16-session version of Integrated Behavior Therapy for Selective Mutism (IBTSM; Bergman, 2013), the first manualized treatment for SM. A nonconcurrent multiple-baseline single-case design was used across five children diagnosed with SM, exclusively anxious subtype. IBTSM was implemented with excellent adherence (M = 98%) over an average of 19 weeks (range = 16-22 weeks). Visual analyses of weekly caregiver ratings of social anxiety and speaking behaviors did not demonstrate a replicated intervention effect; however, Tau-U effect sizes and Reliable Change Index (RCI) calculations demonstrated significant individual improvements in social anxiety and speaking behaviors over time on several measures. Three children (60%) no longer met diagnostic criteria for SM following treatment. All caregivers rated IBTSM as acceptable, with specific endorsements of acceptability in the areas of time required and treatment quality.
PubMed: 37873803
DOI: 10.3390/pediatric15040057 -
World Neurosurgery: X Jul 2023Analyze a series of pediatric patients with cPAs evaluating factors that may modify or determine the final outcome in terms of neurological status, CMS and hydrocephalus.
OBJECTIVE
Analyze a series of pediatric patients with cPAs evaluating factors that may modify or determine the final outcome in terms of neurological status, CMS and hydrocephalus.
MATERIALS AND METHODS
Single Center, retrospective cohort study of surgical patients with cPA and at least 12 months of follow-up. Clinical, imaging and surgical features, histopathology and adjuvancy were assessed. Clinical outcome was categorized using the FSS and modified Bloom-Scale in the short and long term. Recurrency, PFS and mortality were also analyzed.
RESULTS
A total of 100 patients with a mean follow-up of 53.9 months, with no gender predilection, and a mean age of 7.6 years were included. The most frequent location was central and 24% of the tumors presented brainstem invasion. 79 patients had hydrocephalus at diagnosis and 48% required preoperative treatment. RT was achieved in 67% of cases. CMS was observed in 15 patients, statistically associated with location, pontine invasion, preoperative Bloom-score, and postoperative meningitis/ventriculitis. The functional "outcome" was correlated with complications such as meningitis/ventriculitis and cerebellar hematoma, mutism and recurrence. Recurrence was observed in 26% of cases and surgical reintervention was the chosen therapy.
CONCLUSION
The treatment of cPAs in pediatric patients is associated with relatively favorable results. Recurrence, CMS and surgical complications play a prognostic value in the outcome and therefore must be managed appropriately. Early treatment with the intention of GTR should be considered, opting, if this is not possible, to leave a tumor residue over neurological damage. The treatment of hydrocephalus in the preoperative instance requires individualized management.
PubMed: 37021292
DOI: 10.1016/j.wnsx.2023.100180 -
Child's Nervous System : ChNS :... Aug 2023Cerebellar mutism syndrome (CMS) is a well-known complication of posterior fossa (PF) tumour surgery. CMS has previously been reported in cases of non-tumour surgical... (Review)
Review
Cerebellar mutism syndrome (CMS) is a well-known complication of posterior fossa (PF) tumour surgery. CMS has previously been reported in cases of non-tumour surgical aetiology in a limited number of publications. We report a case of a 10-year-old girl who suffered a cerebellar haemorrhage and subsequent CMS following surgical treatment of a ruptured arteriovenous malformation (AVM) in the cerebellar vermis. The AVM was removed acutely through a transvermian access, and hydrocephalus was treated with temporary external drainage. In the postoperative period, she suffered diffuse vasospasms of the anterior cerebral circulation and had a permanent shunt placed for hydrocephalus. Her mutism resolved after 45 days but severe ataxia persisted. To our knowledge, this is the first reported case of CMS related to a vermian haemorrhagic stroke with postoperative diffuse vasospasms. Based on this case, we present a literature review on CMS of non-tumour surgical origin in children.
Topics: Humans; Child; Female; Mutism; Cerebellar Diseases; Brain Neoplasms; Infratentorial Neoplasms; Syndrome; Postoperative Complications; Hydrocephalus; Cerebellar Neoplasms
PubMed: 37140666
DOI: 10.1007/s00381-023-05947-8