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European Journal of Pediatrics Jun 2024Anterior and posterior drooling are prevalent comorbidities in children with neurodevelopmental disabilities. Considering the heterogeneity of the patient population and...
UNLABELLED
Anterior and posterior drooling are prevalent comorbidities in children with neurodevelopmental disabilities. Considering the heterogeneity of the patient population and the multifactorial aetiology of drooling, an interdisciplinary and individualised treatment approach is indispensable. However, no tool for stepwise decision-making in the treatment of paediatric drooling has been developed previously. Within the Radboudumc Amalia Children's Hospital, care for children with anterior and/or posterior drooling secondary to neurodevelopmental disabilities is coordinated by a saliva control team with healthcare professionals from six disciplines. In alignment with international literature, published guidelines, and evidence gained from two decades of experience and research by our team, this paper proposes an algorithm reflecting the assessment and treatment approach applied in our clinic. First, directions are provided to decide on the necessity of saliva control treatment, taking type of drooling, the child's age, and the severity and impact of drooling into account. Second, the algorithm offers guidance on the choice between available treatment options, highlighting the importance of accounting for child characteristics and child and caregiver preferences in clinical (shared) decision-making.
CONCLUSIONS
With this algorithm, we aim to emphasise the importance of repeated stepwise decision-making in the assessment and treatment of drooling in children during their childhood, encouraging healthcare professionals to apply a holistic approach.
WHAT IS KNOWN
• Children with anterior or posterior drooling secondary to neurodevelopmental disabilities comprise a heterogeneous group, necessitating an individualised treatment approach. • No stepwise decision-making tool is available for the treatment of paediatric drooling.
WHAT IS NEW
• Deciding on the necessity of saliva control treatment should be a conscious process, based on type of drooling, age, and drooling severity and impact. • Type of drooling, age, cognition, oral motor skills, self-awareness, posture, diagnosis, and child/caregiver preferences need to be considered to decide on the optimal treatment.
PubMed: 38943011
DOI: 10.1007/s00431-024-05658-5 -
BMC Medical Informatics and Decision... Jun 2024Patient-reported outcome (PRO) is a distinct and indispensable dimension of clinical characteristics and recent advances have made remote PRO measurement possible. Sex...
BACKGROUND
Patient-reported outcome (PRO) is a distinct and indispensable dimension of clinical characteristics and recent advances have made remote PRO measurement possible. Sex difference in PRO of Parkinson's disease (PD) is hardly extensively researched.
METHODS
A smartphone-based self-management platform, offering remote PRO measurement for PD patients, has been developed. A total of 1828 PD patients, including 1001 male patients and 827 female patients, were enrolled and completed their PRO submission through this platform.
RESULTS
Sex differences in PROs have been identified. The female group had a significantly lower height, weight, and body mass index (BMI) than the male group (P < 0.001). For motor symptoms, a higher proportion of patients reporting dyskinesia was observed in the female group. For non-motor symptoms, there is a higher percentage (P < 0.001) as well as severity (P = 0.016) of depression in the female group. More male patients reported hyposmia, lisp, drooling, dysuria, frequent urination, hypersexuality, impotence, daytime sleepiness, and apathy than females (P < 0.05). In contrast, more female patients reported headache, palpation, body pain, anorexia, nausea, urinal incontinence, anxiety, insomnia (P < 0.05) than males.
CONCLUSIONS
We provide evidence for sex differences in PD through the data collected from our platform. These results highlighted the importance of gender in clinical decision-making, and also support the feasibility of remote PRO measurement through a smartphone-based self-management platform in patients with PD.
Topics: Humans; Parkinson Disease; Male; Female; Smartphone; Pilot Projects; Self-Management; Cross-Sectional Studies; Middle Aged; Aged; Patient Reported Outcome Measures; Sex Factors; Mobile Applications
PubMed: 38907208
DOI: 10.1186/s12911-024-02569-1 -
Journal of Neurointerventional Surgery Jun 2024We review the technique for carotid endarterectomy (CEA) and direct carotid access for distal thrombectomy after attempted proximal thrombectomy in the setting of tandem...
We review the technique for carotid endarterectomy (CEA) and direct carotid access for distal thrombectomy after attempted proximal thrombectomy in the setting of tandem occlusions. A patient in their 70s presented with right facial droop and drooling and was found to have critical left carotid stenosis with filling defect in the cavernous segment of the left internal carotid artery consistent with vessel occlusion, Thrombolysis in Cerebral Infarction (TICI) 0, and left M2 middle cerebral artery (MCA) occlusion. After multiple attempts with different wire shapes guided by microcatheter injections within the carotid bulb, we were unable to cross the occlusion. Conversion to open CEA with distal thrombectomy was elected. Following closure of the arteriotomy, direct carotid access using a 5Fr radial artery sheath was achieved within the open surgical field for distal thrombectomy. A 5Fr aspiration catheter was navigated to the left M2 MCA where a stent retriever was then recaptured and TICI 2B reperfusion was achieved.
PubMed: 38906686
DOI: 10.1136/jnis-2024-021662 -
Journal of Acupuncture and Meridian... Jun 2024Post-stroke sialorrhea (PSS) refers to excessive saliva flowing out the lip border after a stroke. PSS negatively affects patient self-image and social communication and... (Randomized Controlled Trial)
Randomized Controlled Trial
IMPORTANCE
Post-stroke sialorrhea (PSS) refers to excessive saliva flowing out the lip border after a stroke. PSS negatively affects patient self-image and social communication and may lead to depression. Limited evidence supports the link between excessive salivation and PSS. No large-scale, strictly controlled randomized controlled trials have shown the effectiveness of acupuncture in treating PSS patients.
OBJECTIVE
We aim to compare the effects of intraoral and sham acupuncture in PSS patients and explore relationships among salivation and drooling severity and frequency and swallowing function in stroke patients.
DESIGN
Clinical study protocol, SPIRIT compliant.
SETTING
Prospective, single-center, randomized, and sham-controlled trial.
POPULATION
We will recruit 106 PSS patients to receive 4-week intraoral or sham acupuncture. Additionally, 53 stroke patients without PSS will undergo a conventional 4-week treatment program to compare salivation between PSS and non-PSS patients.
EXPOSURES
Intraoral or sham acupuncture.
MAIN OUTCOMES AND MEASURES
The main evaluation index will be the 3-minute saliva weight (3MSW), comparing changes in 3MSW from baseline to weeks 4 and 8. Secondary assessment indices will include the “Drooling Severity and Frequency Scale” and “Functional Oral Intake Scale.”
RESULTS
The results from this study will be published in peer-reviewed journals.
CONCLUSION
Comparing effects of intraoral and sham acupuncture in PSS patients, this study may contribute important evidence for future PSS treatment and provide valuable insights into whether salivation issues in stroke patients are attributed to heightened salivary secretion or dysphagia.
Topics: Humans; Sialorrhea; Acupuncture Therapy; Stroke; Male; Prospective Studies; Female; Salivation; Adult; Middle Aged; Randomized Controlled Trials as Topic
PubMed: 38898647
DOI: 10.51507/j.jams.2024.17.3.100 -
Journal of Clinical Medicine Jun 2024Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and... (Review)
Review
Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and absent eye abduction. We largely regard Moebius syndrome as a diagnosis of exclusion. Lack of awareness and knowledge means that children often fall between services, leading to treatment delays and difficulty interfacing with social care and schools, with long-term impact on physical health and psychosocial development. We developed a multidisciplinary team comprising core clinicians (lead physician, geneticist, speech and language therapist, psychologist and specialist nurse) and an expanded group to encompass the other affected systems. The interactions between our specialties lead to the development of a treatment protocol, which we present. The protocol harnesses the aspects of care of children with a range of other rare diseases at a specialised paediatric centre and synthesises them into a holistic approach for MBS and related conditions. Management is sequenced on an "ABC-style" basis, with airway, feeding, vision and speech taking priority in the early years. We define management priorities as airway stabilisation with swallow assessment, ocular surface protection and maintenance of nutritional support. Management principles for issues such as speech, reflux, drooling and sleep issues are outlined. In later years, psychological support has a prominent role geared towards monitoring and interventions for low mood, self-esteem and bullying.
PubMed: 38893020
DOI: 10.3390/jcm13113309 -
Healthcare (Basel, Switzerland) May 2024Dental wear arises from mechanical (attrition or abrasion) and chemical (erosion) factors. Despite its prevalence and clinical significance, accurately measuring and...
Dental wear arises from mechanical (attrition or abrasion) and chemical (erosion) factors. Despite its prevalence and clinical significance, accurately measuring and understanding its causes remain challenging in everyday practice. This one-year study with 39 participants involved comprehensive examinations and full-arch intraoral scans at the start and after 12 months. Volume loss exceeding 100 µ on each tooth's surfaces (buccal, lingual/palatine and incisal/occlusal) was measured by comparing three-dimensional scans from both time points. This study also assessed factors such as abrasion and erosion through clinical exams and questionnaires. There were no significant differences in dental wear in participants with sleep bruxism. However, noticeable wear occurred in the front teeth of those with waking bruxism and joint-related symptoms. Increased wear was associated with frequent consumption of acidic drinks, regular swimming, dry mouth, nocturnal drooling and heartburn, while no significant wear was found in patients with reflux. The used methodology proved effective in accurately assessing the progression of dental wear, which is important as many patients may initially be asymptomatic. The variability observed in dental wear patterns underscores the need to develop specific software applications that allow immediate and efficient comparison of wear areas based on extensive analysis of patient databases.
PubMed: 38891145
DOI: 10.3390/healthcare12111069 -
Cureus May 2024Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in the brain. It leads to neurological symptoms, disability-adjusted life years, and difficult emotional and physical situations for patients and their families. As unusual brain symptoms appear, it becomes important to understand the different clinical manifestations of CADASIL. Our case report and review examine several cases to demonstrate different presentations and management strategies of CADASIL. A 52-year-old male with a family history of strokes at a young age from his father and paternal grandfather presented to a neurology clinic for left facial droop and drooling. Brain magnetic resonance imaging showed extensive periventricular and subcortical white matter disease, including the external capsule and subcortical white matter of the temporal lobe. Findings were suggestive of small vessel vasculopathy. A cerebral angiogram showed that all large extra- and intracranial vessels were patent without evidence of aneurysm formation. There was no obvious evidence of beading of the distal intracranial vessels. Cerebrospinal fluid studies were normal. The NOTCH3 mutation was sent to test for CADASIL, which came back positive. The patient was started on aspirin (81 mg) and atorvastatin (20 mg) daily. The patient was counseled on the possibility of having an ischemic or hemorrhagic stroke. Aspirin and atorvastatin were continued, a neuropsychological evaluation was ordered, and CADASIL genetic counseling and testing were offered to him and his children. Over several years, patients developed several strokes and seizures due to infarcts. He also developed intraparenchymal hemorrhage complicated by dysphagia, requiring a feeding tube. Due to his severe physical debility, he was discharged to a nursing home for rehabilitation, where he did not improve with therapy and remained bedbound. He was discharged and sent home with his family. CADASIL can present as a diagnostic challenge due to its common presentation with migraines, transient ischemic attacks, and strokes, with or without risk factors. This unique presentation of CADASIL with facial palsy highlights the importance of emerging atypical presentations and the need for a detailed history of neuroimaging, family history, and personal history of neurovascular events. By accurately diagnosing the condition, patients and families can be counseled on the disease course and genetics. Management requires a multidisciplinary approach with neurology, genetic counseling, physical therapy, psychology, and psychiatry if depression or anxiety is present, with the aim of improving the patient's quality of life.
PubMed: 38868233
DOI: 10.7759/cureus.60165 -
Indian Journal of Palliative Care 2024Non-invasive ventilation (NIV), namely continuous positive airway pressure (CPAP) and bi-level positive airway pressure (BiPAP), delivers mechanical ventilation without...
OBJECTIVES
Non-invasive ventilation (NIV), namely continuous positive airway pressure (CPAP) and bi-level positive airway pressure (BiPAP), delivers mechanical ventilation without endotracheal intubation. Short-term NIV (planned for <21 days during initiation) can be used for the management of acute respiratory distress (ARD) among paediatric palliative patients with "Do Not Resuscitate or Intubate" (DNI) as the ceiling of care. This study aimed to describe the usage of short-term NIV among paediatric palliative patients in a woman and child hospital with a paediatric palliative subspecialty.
MATERIALS AND METHODS
A retrospective and observational study was conducted on all paediatric palliative patients who received short-term NIV in Tunku Azizah Hospital Kuala Lumpur, Malaysia, from March 2020 to May 2022.
RESULTS
During the study period, short-term NIV was offered on 23 occasions for 20 different children. Indications for short-term NIV include 16 (69.6%) occasions of potentially reversible ARD (NIV Category 1) and 7 (30.4%) occasions of comfort care at the end of life (NIV Category 2). The main cause of ARD was pneumonia (90.3%) due to either aspiration or infection. The modality of NIV used was BiPAP only (14 occasions, 60.9%), CPAP only (three occasions, 13%) and both BiPAP and CPAP (six occasions, 26.1%). The median duration of NIV usage was four days (minimum one day and maximum 15 days). NIV was initiated as an escalation from nasal prong, Ventimask or high-flow mask oxygen on 22 occasions and as weaning down post-extubation on one occasion. For the 22 occasions of escalating therapy, there was significant improvement at six hours compared to pre-NIV in the median heart rate (136 to 121, =0.002), respiratory rate (40 to 31, =0.002) and oxygen saturation (96% to 99%, =0.025). All 17 documented parental impressions of the child's condition post six hours of NIV were that the child had improved. Adverse events during short-term NIV include five episodes (21.7%) of stomach distension, four episodes (17.4%) of skin sores on the face and one episode (4.3%) of excessive drooling. Three patients passed away while on NIV in the hospital. For the other 20 (87%) occasions, patients were able to wean off NIV. Post-weaning off NIV, three patients passed away during the same admission. On 17 occasions, patients were discharged home after weaning off NIV.
CONCLUSION
Usage of short-term NIV in paediatric palliative care, where children have an advanced directive in place indicating DNI, as seen in our study, can be a valuable modality of management for distressing symptoms, in addition to the pharmacological management of breathlessness. This is shown through our study to be of benefit in potentially reversible ARD as well as comfort care at the end of life. Further rigorous studies will need to be conducted for a clearer understanding of short-term NIV that would enable the formulation of guidelines to improve the quality of life and death in children.
PubMed: 38846132
DOI: 10.25259/IJPC_304_2023 -
Acta Medica Philippina 2024Airway management of a pediatric patient with cervical cystic hygroma can be challenging as the large neck mass may extend in the oral cavity, result in tracheal...
Airway management of a pediatric patient with cervical cystic hygroma can be challenging as the large neck mass may extend in the oral cavity, result in tracheal deviation, and cause possible upper airway obstruction. This is a case of a 4-year-old female admitted due to sudden enlargement of neck mass associated with dysphagia and sialorrhea. Patient was intubated under sedation while maintaining spontaneous ventilation with a pediatric flexible fiberoptic scope through a nasopharyngeal airway serving as a passage guide for ease of scoping and a protective device against trauma.
PubMed: 38836084
DOI: 10.47895/amp.v58i9.8809 -
BMC Neurology May 2024Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population,...
BACKGROUND
Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial.
METHODS
This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy.
RESULTS
Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified.
CONCLUSION
This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.
Topics: Humans; Pakistan; Epilepsy; Male; Female; Comorbidity; Child; Genetic Heterogeneity; Pedigree; Child, Preschool; Adolescent; Exome Sequencing; Adult; Developmental Disabilities; Young Adult; Intellectual Disability; Phenotype
PubMed: 38783254
DOI: 10.1186/s12883-024-03671-7