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European Child & Adolescent Psychiatry Jan 2024The siblings of children with mental disorders are more likely to experience mental health issues themselves, but there has been a lack of sibling studies on selective...
The siblings of children with mental disorders are more likely to experience mental health issues themselves, but there has been a lack of sibling studies on selective mutism (SM). The aim of this population-based study was to use national registers to examine associations between children with SM and diagnoses of various mental disorder in their siblings. All singleton children born in Finland from 1987 to 2009, and diagnosed with SM from 1998 to 2012, were identified from national health registers and matched with four controls by age and sex. Their biological siblings and parents were identified using national registries and the diagnostic information on the siblings of the subjects and controls was obtained. The final analyses comprised 658 children with SM and their 1661 siblings and 2092 controls with 4120 siblings. The analyses were conducted using generalized estimating equations. Mental disorders were more common among the siblings of the children with SM than among the siblings of the controls. The strongest associations were observed for childhood emotional disorders and autism spectrum disorders after the data were adjusted for covariates and comorbid diagnoses among SM subjects. The final model showed associations between SM and a wide range of disorders in siblings, with strongest associations with disorders that usually have their onset during childhood. Our finding showed that SM clustered with other mental disorders in siblings and this requires further research, especially the association between SM and autism spectrum disorders. Strong associations with childhood onset disorders may indicate shared etiologies.
Topics: Child; Humans; Mutism; Siblings; Neurodevelopmental Disorders; Mental Disorders; Comorbidity; Child Behavior Disorders
PubMed: 36422730
DOI: 10.1007/s00787-022-02114-3 -
Research Square Aug 2023Studies exploring the brain correlates of behavioural symptoms in the frontotemporal dementia spectrum (FTD) have mainly searched for linear correlations with single...
BACKGROUND
Studies exploring the brain correlates of behavioural symptoms in the frontotemporal dementia spectrum (FTD) have mainly searched for linear correlations with single modality neuroimaging data, either structural magnetic resonance imaging (MRI) or fluoro-deoxy-D-glucose positron emission tomography (FDG-PET). We aimed at studying the two imaging modalities in combination to identify nonlinear co-occurring patterns of atrophy and hypometabolism related to behavioural symptoms.
METHODS
We analysed data from 93 FTD patients who underwent T1-weighted MRI, FDG-PET imaging, and neuropsychological assessment including the Neuropsychiatric Inventory, Frontal Systems Behaviour Scale, and Neurobehavioral Rating Scale. We used a data-driven approach to identify the principal components underlying behavioural variability, then related the identified components to brain variability using a newly developed method fusing maps of grey matter volume and FDG metabolism.
RESULTS
A component representing apathy, executive dysfunction, and emotional withdrawal was associated with atrophy in bilateral anterior insula and putamen, and with hypometabolism in the right prefrontal cortex. Another component representing the disinhibition versus depression/mutism continuum was associated with atrophy in the right striatum and ventromedial prefrontal cortex for disinhibition, and hypometabolism in the left fronto-opercular region and sensorimotor cortices for depression/mutism. A component representing psychosis was associated with hypometabolism in the prefrontal cortex and hypermetabolism in auditory and visual cortices.
DISCUSSION
Behavioural symptoms in FTD are associated with atrophy and altered metabolism of specific brain regions, especially located in the frontal lobes, in a hierarchical way: apathy and disinhibition are mostly associated with grey matter atrophy, whereas psychotic symptoms are mostly associated with hyper-/hypo-metabolism.
PubMed: 37674710
DOI: 10.21203/rs.3.rs-3271530/v1 -
Child's Nervous System : ChNS :... Jun 2020Cerebellar mutism (CM), pseudobulbar palsy, posterior fossa syndrome (PFS), and cerebellar cognitive affective syndrome (CCAS) are terms that have been used, sometimes... (Review)
Review
Pediatric post-operative cerebellar mutism syndrome, cerebellar cognitive affective syndrome, and posterior fossa syndrome: historical review and proposed resolution to guide future study.
BACKGROUND
Cerebellar mutism (CM), pseudobulbar palsy, posterior fossa syndrome (PFS), and cerebellar cognitive affective syndrome (CCAS) are terms that have been used, sometimes interchangeably, to refer to the complex neurological constellation that occurs following surgical removal of cerebellar and fourth ventricular tumors, mostly in children, but also sometimes in adults.
METHODS
This paper reviews the origins of what is now regarded as pediatric post-operative cerebellar mutism, the cerebellar cognitive affective syndrome, and the neurological manifestations of injury to or disruption of brainstem and cerebellar structures. It examines the specific components of each of these phenomena in the context of the evolving understanding of the role of the cerebellum in nervous system function.
RESULTS
Children undergoing surgical management of tumors in the posterior cranial fossa are at risk of experiencing cranial neuropathies, corticospinal damage, cerebellar ataxia and related motor disorders, neuropsychiatric and cognitive changes, and in some patients, mutism. These clinical presentations are differentiated from each other and examined in the context of the relevant anatomical structures and distributed neural circuits. The term posterior fossa syndrome is not sufficiently helpful in distinguishing the different elements of the clinical phenomena from each other, and because of this lack of precision and specificity, there is consensus among investigators in the international Posterior Fossa Society that the designation be retired.
CONCLUSIONS
Using contemporary brain imaging methods and guided by careful clinical observation and meticulous definition of clinical phenomenology, it is now feasible to perform detailed structure function correlation analyses to achieve two critical goals in the care of children with tumors in the posterior cranial fossa. The first goal is to identify and understand the neural circuits responsible for the different manifestations-arousal, cranial neuropathies, long tract signs, cerebellar motor syndrome, cerebellar vestibular syndrome, cerebellar cognitive affective syndrome including emotional dyscontrol, and mutism. The second goal is to transform this knowledge into practical clinical intervention, preventing the complications inherent in the necessary surgery whenever possible, and develop new approaches to treatment with methods including brain modulation targeting interconnected nodes of the damaged neural circuits.
Topics: Adult; Cerebellar Diseases; Cerebellar Neoplasms; Cerebellum; Child; Cognition; Cranial Fossa, Posterior; Humans; Mutism; Postoperative Complications
PubMed: 31240391
DOI: 10.1007/s00381-019-04253-6 -
Psychology Research and Behavior... 2021Selective mutism (SM) is a childhood disorder characterized by a consistent failure to speak in specific social situations (eg, school) despite speaking normally in... (Review)
Review
Selective mutism (SM) is a childhood disorder characterized by a consistent failure to speak in specific social situations (eg, school) despite speaking normally in other settings (eg, at home). This article summarizes evidence supporting the recent classification of SM as an anxiety disorder and discusses the implications of this re-classification for the assessment and treatment of SM in clinical practice. Meanwhile, clinicians should also realize that SM sometimes is a heterogeneous disorder in which other problems are also present that complicate the management of children with SM. As examples, we discuss speech and language problems, developmental delay, and autism spectrum disorders.
PubMed: 33623447
DOI: 10.2147/PRBM.S274538 -
Tidsskrift For Den Norske Laegeforening... Nov 2021The diagnosis selective mutism describes children who are completely mute in situations where speech is expected (usually in day-care or school), whereas at home they do...
The diagnosis selective mutism describes children who are completely mute in situations where speech is expected (usually in day-care or school), whereas at home they do speak with close family members. Early intervention is essential, but often a long time may pass before these children are offered adequate help.
Topics: Adolescent; Child; Child Behavior Disorders; Humans; Mutism; Schools
PubMed: 34813222
DOI: 10.4045/tidsskr.21.0354 -
Journal of Pediatric Genetics Sep 2016We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the... (Review)
Review
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams-Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation.
PubMed: 27617154
DOI: 10.1055/s-0036-1584361 -
Medicina Mar 2023Autism is a neurodevelopmental disorder characterized by a qualitative alteration in social interaction and communication, associated with restricted interests and... (Review)
Review
Autism is a neurodevelopmental disorder characterized by a qualitative alteration in social interaction and communication, associated with restricted interests and stereotyped behaviors. It can be associated with medical problems such as epilepsy, gastrointestinal dysfunction, sleep disorders, other neurodevelopmental disorders such as language impairment, intellectual disability, sensory dysfunction, ADH/D, motor clumsiness, and/or neuropsychiatric disorders such as anxiety, depression, catatonia, schizophrenia, obsessive-compulsive disorders, behavioral and impulsive disorders, among others. Catatonia is recognized as a neuropsychiatric syndrome identified in all major mood and psychotic disorders, due to general medical conditions or as a syndrome not otherwise specified; this allows catatonia to be coded in the context of other psychiatric or neurodevelopmental disorders, such as obsessive-compulsive disorder or autism. It is characterized by abnormal motor, vocal, and behavioral symptoms, with impaired volition and vegetative function. It is estimated that approximately 8-11% of autistic people suffer from catatonia. It is probable that there is an underreporting of catatonia, especially in people with autism, due to the lack of alertness about it, the clinical heterogeneity and the similarity of many of its symptoms with manifestations of autism. Many times it can even express itself as a late autistic regression from puberty to adult life. Its neurobiological bases are still not clear and the treatment is based on the administration of bensodiazepines and electroconvulsive therapy although there is still a long way to go to investigate these issues.
Topics: Adult; Humans; Autistic Disorder; Catatonia; Psychotic Disorders; Stereotyped Behavior; Electroconvulsive Therapy
PubMed: 36820482
DOI: No ID Found -
Journal of Rural Medicine : JRM Oct 2020Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the...
Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the gene. Thyroid function is generally reported as euthyroid or hypothyroid in this condition. We present a case of Pendred syndrome with hyperthyroidism. An 83-year-old woman with congenital deaf-mutism presented with complaints of nausea. She developed a large goiter and had hearing impairment. Her hearing level was 105 dB in both ears. She presented with hyperthyroidism and was treated with thiamazole. She had a homozygous mutation in c.1579A>C:p.T527P of the gene, confirming a diagnosis of Pendred syndrome. Pendred syndrome may develop into hyperthyroidism if the size of the goiter increases. Moreover, a homozygous mutation in c.1579A>C:p.T527P of the gene, which was previously reported to be associated with nonsyndromic hearing loss with enlarged vestibular aqueduct, may also cause Pendred syndrome.
PubMed: 33033545
DOI: 10.2185/jrm.2020-011 -
Journal of Neuro-oncology Jul 2022Surgical resection of medulloblastoma (MB) remains a challenge. At present, a variety of tracers have been used for intraoperative tumor visualization. However, there...
INTRODUCTION
Surgical resection of medulloblastoma (MB) remains a challenge. At present, a variety of tracers have been used for intraoperative tumor visualization. However, there are few reports on the intraoperative visualization of MB. Hence, we reported our experience of applying fluorescein sodium (FS) in MB surgery.
METHODS
We retrospectively analyzed the clinical information of patients with MB confirmed by surgery and pathology from January 2016 to December 2020 from Sun Yat-sen University Cancer Center. A total of 62 patients were enrolled, of which 27 received intraoperative FS and 35 did not. The intraoperative dose of FS was 3 mg/kg.
RESULTS
Among the 62 patients, 42 were males, and twenty were females. The age of onset in the FS group was 9.588 ± 7.322, which in the non-fluorescein sodium group was 13.469 ± 10.968, p = 0.198. We did not find significant differences in tumor location, tumor size, tumor resection, tumor histology, and preoperative symptoms (hydrocephalus, headache, vomit, balance disorder) between the groups. There was no significant difference in the postoperative symptoms (hydrocephalus, headache, vomiting, balance disorder, and cerebellar mutism). However, patients in the FS group had a relatively low incidence of balance disorder and cerebellar mutism. There was definite fluorescence of tumor in all cases of the FS group, and even the tiny metastatic lesion was visible. No case had side effects related to the use of FS.
CONCLUSIONS
FS is safe and effective in MB surgery. Whether the application of FS for surgery can reduce complications remains to be studied in the future.
Topics: Cerebellar Neoplasms; Female; Fluorescein; Headache; Humans; Hydrocephalus; Male; Medulloblastoma; Mutism; Retrospective Studies; Sodium
PubMed: 35657459
DOI: 10.1007/s11060-022-04035-2 -
Journal of Communication Disorders 2022In the early 20 century a link between infection and speech disfluency was discussed. Recent reports indicate that PANS (Pediatric Acute-onset Neuropsychiatric...
INTRODUCTION
In the early 20 century a link between infection and speech disfluency was discussed. Recent reports indicate that PANS (Pediatric Acute-onset Neuropsychiatric Syndrome), and PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections) may be associated with a high incidence of speech disfluency. The present study specifically investigates disfluency and other speech symptoms following onset of PANS and PANDAS. Prevalence of previously reported speech related symptoms vocal tics, selective mutism and "baby talk" is included. The present study also aims to explore possible changes in articulation and intelligibility, distress due to speech impairment, and effect of PANS or PANDAS medication on speech symptoms.
METHODS
A questionnaire was distributed to caregivers of children with diagnosed or suspected PANS or PANDAS. In total 55 individuals in Sweden were included.
RESULTS
Onset of speech disfluency in association with PANS or PANDAS was reported by 54.5% of the caregivers. Most frequent disfluency symptoms were higher speech rate, superfluous verbal behavior, verbal blocks and associated motor symptoms. Previous findings of vocal tics, baby talk and mutistic behavior are supported. The present study also exposed previously unreported symptoms such as impaired articulation, reduced intelligibility, reduced speech production and language impairment. Eleven caregivers reported that medical treatment had a positive effect on speech fluency.
CONCLUSIONS
A connection between PANS and PANDAS and speech disfluency is supported, and a possible link between infection and disfluency is reactualized. Reported disfluency shares several characteristics with stuttering and cluttering, but the caregivers did not consistently associate it with stuttering. The present study also sheds new light on how symptoms of "baby talk", selective mutism and vocal tics might be viewed in this population. In all, the results indicate a substantial impact on speech fluency, speech and language in affected children, reducing quality of life.
Topics: Autoimmune Diseases; Child; Humans; Mutism; Obsessive-Compulsive Disorder; Quality of Life; Speech; Stuttering; Tics
PubMed: 35964340
DOI: 10.1016/j.jcomdis.2022.106250