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1.

Context

Dissociative disorders present a huge challenge in clinical settings. In contrast to other dissociative symptoms, dissociative sensibility disorders are rarely focused on.

Objective

To identify the clinical characteristics and outcomes of dissociative sensibility disorders in children and adolescents, and to review the use of diagnostic procedures.

Data sources

For the review, a literature search used Pubmed, Embase, Web of Science, and PubPsych (to 02/2015) and the reference lists of the studies identified.

Study selection

Screening of titles and abstracts; full-text assessment by two reviewers.

Data selection

The original case series was identified by using the local data register.

Data extraction

Two reviewers independently reviewed the data and, if they agreed on the relevance, extracted the data. In the original case series, data were extracted retrospectively from the records.

Results

Sixteen studies and seven case reports were identified, including 931 cases with dissociative disorders. In 210 cases the patient suffered either from a single sensibility disorder or predominantly from sensibility disorders. We identified thirteen further cases in our cohort. In both groups there was female predominance; the mean age of manifestation was early adolescence. The timing of admissions was variable. In approximately 50% of cases a premorbid stressful life event could be identified. Over 75% of cases had a good prognosis with complete resolution.

Limitations

Retrospective character of our own data collection, partially missing differentiation between the subgroups of dissociative disorders in the reviewed studies.

Conclusions

There is no uniform procedure for diagnostic work-up. The overall short-term prognosis is good.  相似文献   

2.

Introduction

Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM).

Methods

We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM.

Results

Fourteen patients were diagnosed with BPTI, 39 with BPVC, and 100 with VM. Abnormal rotary chair testing was associated with progression from BPTI to BPVC (n = 8, p = 0.045). Eight (57.1%) patients with BPTI and 11 (28.2%) with BPVC had motor delay. Eleven (78.6%) patients with BPTI and 21 (53.8%) with BPVC had balance impairment. Six BPTI patients developed BPVC (42.9%), six BPVC patients developed VM (15.4%), and two patients progressed through all three disorders (2%). One BPTI patient progressed directly to VM.

Discussion

Most patients with BPTI will experience complete resolution in early childhood, but some will progress to BPVC, and similarly many patients with BPVC will progress to VM. Parents of children with these disorders should be made aware of this phenomenon, which we refer to as “the vestibular march.” Children with BPTI and BPVC should also be screened for hearing loss, otitis media, and motor delay.  相似文献   

3.

Purpose

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet. We initiated an international treatment registry using Research Electronic Data Capture (REDCap) software to evaluate treatment outcome.

Methods

Physicians completed an online REDCap questionnaire. Clinical severity score applied pre-treatment and on treatment.

Results

There were 22 patients. All had developmental delay, 18 had seizures and 8 had movement disorder. Based on the clinical severity score, 5 patients had a severe, 14 patients had a moderate and 3 patients had a mild phenotype. All patients had pathogenic variants in GAMT. The phenotype ranged from mild to moderate in patients with the most common c.327G > A variant. The phenotype ranged from mild to severe in patients with truncating variants. All patients were on creatine, 18 patients were on ornithine and 15 patients were on arginine- or protein-restricted diet. Clinical severity score improved in 13 patients on treatment. Developmental delay improved in five patients. One patient achieved normal development. Eleven patients became seizure free. Movement disorder resolved in four patients.

Conclusion

In our small patient cohort, there seems to be no phenotype–genotype correlation. Creatine and ornithine and/or arginine- or protein-restricted diet were the most useful treatment to improve phenotype.  相似文献   

4.

Objective

The role of autoimmunity and neural antibodies is increasingly recognized in different forms of seizures and epilepsy. Their prevalence in new-onset epilepsy has also recently been the focus of several clinical cohorts in the adult and pediatric population, with positive titers in 10–11% of cases. Our aim was to determine the seropositivity at the first seizure onset in a non-selective group of children.

Method

We conducted a prospective multicenter cohort study recruiting children aged 0–16 years with new-onset seizures presenting at the In- and Outpatient Pediatric Neurology Departments of three Children's Hospitals in Switzerland between September 2013 and April 2016. Neural antibodies were screened within the first 6 months of a first seizure and when positive, repeated at 1 month and 6 months follow-up.

Results

A total of 103 children were enrolled with a mean age at presentation of 5 years (range 1 day–15 years 9 months). The majority (n = 75) presented with generalized seizures and 6 had status epilepticus lasting > 30 min. At the time of onset, 55% of patients had fever, 24% required emergency seizure treatment and 27% hospitalization. Epilepsy was diagnosed at follow-up in 18%. No specific antibody was found. Serum antibodies against the VGKC complex, without binding to the specific antigens LGI1 and CASPR2, were found in two patients. Four patients harbored not otherwise characterized antibodies against mouse neuropil.

Interpretation

Specific neural antibodies are rarely found in an unselected population of children that present with a first seizure. Applying an extensive neuronal antibody profile in a child with new-onset seizures does not appear to be justified.  相似文献   

5.

Background

Antibody-associated disorders of the central nervous system are increasingly recognised in adults and children. Some are known to be paraneoplastic, whereas in others an infective trigger is postulated. They include disorders associated with antibodies to N-methyl-d-aspartate receptor (NMDAR), voltage-gated potassium channel-complexes (VGKC-complex), GABAB receptor or glycine receptor (GlyR). With antibodies to NMDAR or VGKC-complexes, distinct clinical patterns are well characterised, but as more antibodies are discovered, the spectra of associated disorders are evolving. GlyR antibodies have been detected in patients with progressive encephalopathy with rigidity and myoclonus (PERM), or stiff man syndrome, both rare but disabling conditions.

Case Report

We report a case of a young child with focal seizures and progressive dyskinesia in whom GlyR antibodies were detected. Anticonvulsants and immunotherapy were effective in treating both the seizures and movement disorder with good neurological outcome and with a decline in the patient's serum GlyR-Ab titres.

Conclusion

Glycine receptor antibodies are associated with focal status epilepticus and seizures, encephalopathy and progressive dyskinesia and should be evaluated in autoimmune encephalitis.  相似文献   

6.

Background

Ataxia telangiectasia (AT) is a neurodegenerative cerebellar disorder, caused by mutations in the ATM gene, involved in DNA repair. Radiosensitivity, progressive ataxia, immune deficiency and malignancies, are well known symptoms, but urological manifestations are scarcely described.

Objective

To characterize urologic manifestations in a large cohort of AT patients.

Methods

Retrospective cross-sectional chart study comprising 52 AT patients followed at a National AT Center.

Results

25% of the cohort (13 patients/8 males) had urologic symptoms, which presented at 11 ± 4.3 years. The most common symptom was secondary enuresis affecting 15% of the patients (8 children/4 males). Incontinence appeared at 8 ± 6.2 years of age, and resolved spontaneously within 15 ± 8.3 months in 6 patients. It preceded loss of ambulatory capacity by 1–2 years in 7 patients. Lumbosacral MRI were normal (4 children) and urine cultures (all) were negative. Urodynamic evaluation that was performed in only one patient revealed overactive bladder. Additional manifestations were macroscopic hematuria due to bladder telangiectasia in a 12-year-old, and renal cell carcinoma in a 22-year-old. Other manifestations unrelated to AT were neprolithiasis, vesico-ureteral reflux and scrotal pain, each in 1 patient.

Discussion

Transient secondary enuresis is a frequent finding in AT patients, heralding loss of ambulatory capacity, tough it's pathophysiological mechanism is largely no understood.  相似文献   

7.

Objective

The objective of our study was to evaluate the knowledge about fetal alcohol spectrum disorders (FASD) and the implementation of the German guideline for FASD among different professionals in the health and social system and among parents with children with FASD.

Methods

A questionnaire about FASD, containing 20 items, was sent by post to all children's hospitals (n = 287), all hospitals for child and adolescent psychiatry (n = 173), all social paediatric centres (n = 162), all neuropaediatricians (n = 129) and all youth welfare offices (n = 672) in Germany. Furthermore a link to the questionnaire as online version was put in the member's newsletter by 14 relevant professional societies. Besides, the questionnaire was distributed personally to the attendees of the annual national FASD conference (n = 363).

Results

Altogether 428 persons took part in the survey. 273 participants were professionals and 155 parents of children with FASD. More than 95% of the professionals and parents knew that alcohol consumption during pregnancy constitutes a risk for the child. The prevalence of maternal alcohol consumption and of FASD was underestimated. Although approx. 70% of the professionals knew which disorders belong to FASD just a few could tell their specific deficits. Questions regarding effective intervention for children with FASD and the long-term outcome were only partially answered correctly.

Discussion

Professionals in the German health and social system are aware of FASD but underestimate the level of damage and the impact on every day functioning of the affected people.  相似文献   

8.

Background

Rotavirus nonstructural protein 4 (NSP4) has been suggested as a pathogen of rotavirus-associated seizures. We investigated pre-existing serum antibodies against NSP4 and VP6 (the most highly immunogenic rotavirus protein) in patients with rotavirus gastroenteritis and its correlation with the occurrence of seizures.

Methods

With an enzyme-linked immunosorbent assay, IgG and IgA titers against NSP4 (genotype [A] and [B]) and VP6 were measured in acute-phase sera of 202 children aged 0.5–6.0 years with rotavirus gastroenteritis. The clinical characteristics and antibody levels were compared between patients with (seizure group) and without seizures (non-seizure group).

Results

The non-seizure and seizure groups comprised 173 and 29 patients, respectively. Age, sex, hospital stay, presence of fever, white blood cell counts, C-reactive protein, vaccine status, IgG/IgA titers for VP6, and IgA titers for both NSP4s did not differ between the groups. The seizure group showed a lower level of IgG against NSP4 [A] (184.5 vs. 163.0 U/mL; P = 0.03) and NSP4 [B] (269.0 vs. 196.0 U/mL; P = 0.02). Delayed sampling time from the onset of gastroenteritis symptoms (3 vs. 2 days; P = 0.02) and lower serum sodium level (133.4 vs. 136.3 mEq/L; P < 0.01) were observed in the seizure group. Even after adjusting these factors, anti-NSP4 [A] IgG (OR 2.56 per 100 U/mL increment; 95% CI, 1.20–5.26, P = 0.01) and anti-NSP4 [B] IgG (OR 1.51 per 100 U/mL-increment; 95% CI, 1.04–2.22, P = 0.03) were independently associated with protection against seizures.

Conclusions

Serum anti-NSP4 IgG might protect rotavirus-associated seizures.  相似文献   

9.

Objective

To evaluate prospectively the effectiveness of cognitive behavioral therapy (CBT) in children with autism spectrum disorder (ASD).

Methods

Drug-naïve children who met the DSM-V criteria for a diagnosis of ASD were recruited from a day care center, specialized in long-term treatment of children and adolescents with ASD. Symptom assessment was performed using the Aberrant Behavior Checklist (ABC) before (base-line) and after 12 months (follow-up) of CBT.

Results

Nine boys with a mean age of 6 (±2.0) years were included. Compared to baseline, significant improvements of symptoms of irritability (p = 0.012), hyperactivity (p = 0.008) and lethargy (p = 0.008) were observed at follow-up.

Conclusion

Results indicate that CBT is an effective therapy for children with ASD. Larger studies are needed to give more details about which symptoms respond best in these patients.  相似文献   

10.

Objectives

To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family.

Methods

We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation.

Results

The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).

Conclusions

The novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743C > del frameshift mutation in the DAG1 gene.  相似文献   

11.

Background

The quality of general movements (GMs) has proven to have predictive value for the developmental outcome, but this has not yet been studied in twins.

Aims

Our aim was to analyse the quality of GMs and neurological and developmental outcome in relation to the gestational age (GA), mode of conception and other perinatal risk factors in a group of twins.

Study design

The documentation of twins referred for follow-up in the period from 1998 to 2016 was studied retrospectively. Data concerning the quality of GMs, perinatal risk factors and developmental outcome were analysed.

Subjects

Eighty-nine twin pairs, GA from 24 to 38 weeks (median 35.0; IQR 3), birth weight 670 g–3820 g (median 2323; IQR 645) were included.

Outcome measures

Results of neurological, psychological and speech/language development and school outcome were analysed.

Results

GMs at term age and at three to four months postterm age did not differ with regard to the mode of conception. Preterm birth was significantly related to GMs at three to four months postterm age. At term age, GMs were significantly related to neurological outcome, while at three to four months postterm age, GMs were related to both the neurological and psychological outcome. Difficulties in speech/language development were diagnosed in almost half of the children, more frequently in boys and children with lower Apgar scores.

Conclusion

The study highlights the value of GMs for predicting the developmental outcome in twins and indicates the importance of developmental, especially speech/language, follow-up in twins.  相似文献   

12.

Introduction

The purposes of this project were (a) to examine criteria derived from evidence-based pediatric acute asthma exacerbation assessment tools, asthma scores, and the acute asthma prediction rule validated and used in the emergency department and (b) to adapt these criteria for pediatric primary care.

Method

The three stages of the project included (a) identification of criteria in a literature review, (b) validation of the criteria by an expert panel, and (c) adaptation of the criteria in the design of an assessment tool.

Results

The criteria were validated and adapted in the design of The Pediatric Acute Asthma Exacerbation Severity Assessment and Disposition Decision-Making Tool for Pediatric Primary Care.

Discussion

The adaptation of criteria derived from the evidence and validated by an expert panel will inform and guide clinicians in assessing severity and support decision making in determining disposition of pediatric patients presenting with an acute asthma exacerbation in primary care.  相似文献   

13.

Introduction

Many patients with cerebral palsy (CP) suffer chronic pain as one of the most limiting factors in their quality of life. In CP patients, pain mechanisms are not well understood, and pain therapy remains a challenge. Quantitative sensory testing (QST) might provide unique information about the functional status of the somatosensory system and therefore better guide pain treatment.

Objectives

To understand better the underlying pain mechanisms in pediatric CP patients, we aimed to assess clinical and pain parameters, as well as QST profiles, which were matched to the patients' cerebral imaging pathology.

Patients and methods

Thirty CP patients aged 6–20 years old (mean age 12 years) without intellectual impairment underwent standardized assessments of QST. Cerebral imaging was reassessed. QST results were compared to age- and sex-matched controls (multiple linear regression; Fisher's exact test; linear correlation analysis).

Results

CP patients were less sensitive to all mechanical and thermal stimuli than healthy controls but more sensitive to all mechanical pain stimuli (each p < 0.001). Fifty percent of CP patients showed a combination of mechanical hypoesthesia, thermal hypoesthesia and mechanical hyperalgesia; 67% of CP patients had periventricular leukomalacia (PVL), which was correlated with mechanic (r = 0.661; p < 0.001) and thermal (r = 0.624; p = 0.001) hypoesthesia.

Conclusion

The combination of mechanical hypoesthesia, thermal hypoesthesia and mechanical hyperalgesia in our CP patients implicates lemniscal and extralemniscal neuron dysfunction in the thalamus region, likely due to PVL. We suspect that extralemniscal tracts are involved in the original of pain in our CP patients, as in adults.  相似文献   

14.

Background

Maternal trauma complicates pregnancy in approximately 7%. Long-term development of children exposed to maternal trauma is unknown.

Aim

To determine neurobehavioural outcome of children (6–18 years) born after maternal trauma in pregnancy compared to a matched control group.

Study design

Case-control study performed at a tertiary medical centre.

Subjects

All consecutive children born after maternal hospitalization for trauma during pregnancy between 1995 and 2005. Controls were children born at the same hospital and period after an uneventful pregnancy.

Outcome measures

Trauma type and severity (Injury Severity Score, ≥9: severe); information from medical files at admission (cases). All mothers filled out two questionnaires about the infant; 1. concerning health, motor development and educational level, 2. concerning behavioural development through the validated Dutch version of the Child Behavior Checklist (CBCL).

Results

Questionnaires were returned by 34 cases and 28 controls. The traumas concerned mainly motor vehicle accidents and falls, and 3/34 had severe injuries. No differences in health, motor development, educational level and CBCL was found between the cases and controls, except for more hospitalization in the cases (p = 0.009).

Conclusion

Long-term follow-up of a limited population of children 6–18 years after exposure of mainly non-severe trauma before birth is similar to a control population except for unexplained more hospitalization in the cases.  相似文献   

15.

Aim

We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients initially diagnosed with cardiac rhabdomyomas (CR).

Method

Over the period of twelve years we prospectively obtained clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 TSC patients (9 females, 13 males) with the pre/perinatal diagnosis of CR, included to the study at the time of diagnosis. Afterwards, we statistically determined variables associated with ID, ASD and intractable epilepsy.

Results

Development of ID was predicted by severe epilepsy (a higher number of anti-epileptic drugs used), a higher number of dysplastic lesions on MRI, and abnormal background activity on EEG (p < 0.05). Predictors of ASD included early developmental delay, abnormal background activity on EEG at the end of follow-up and a higher number of areas with dysplastic features on MRI (p < 0.05). Intractable epilepsy was associated with a higher number of areas with dysplastic features on MRI, ID and with TSC2 genotype.

Conclusion

Adverse mental and clinical outcome was associated with intractable epilepsy and the severe anatomical brain involvement; therefore, our centre developed a tailored protocol for early identification of TSC patients at a higher risk of developing intractable epilepsy with its deleterious effect on cognitive outcome.  相似文献   

16.

Aim

Despite antiepileptic medication and dietary treatment options available about 45% of children with epilepsy still suffer from uncontrolled seizures. Triheptanoin is an anaplerotic treatment designed to improve energy generation via the Krebs cycle.

Method

For the first time, we evaluated the feasibility, tolerability and efficacy of add-on triheptanoin in 12 patients with medically refractory epilepsy (seven males, five females; min–max: 3–18yr, median 13.5 yr).

Results

Eight out of a total of 12 children (67%), who tested the treatment, finished the trial and tolerated between 30 and 100 ml of triheptanoin per day for >12 weeks (median 55 ml, 20.5% caloric intake). The most common adverse effects were diarrhea and other gastro-intestinal effects in seven kids. One child experienced leaking and another child had an infected percutaneous endoscopic gastrostomy button. Five children (62.5%), who all had been on the ketogenic diet previously, showed sustained >50% reductions in seizure frequency, including one patient who became seizure free for 30 weeks. Four patients extended their treatment to a total of 201–909 days, until seizure frequency or severity increased.

Interpretation

In this small trial, triheptanoin was safe and tolerable in children with epilepsy. As some children showed reductions in seizure numbers and/or severity, larger randomized controlled studies are now needed for further evaluation of safety and efficacy.  相似文献   

17.
18.
19.

Background

Headache on wakening (HoW) or sleep interruption secondary to headache (SIH) has been commonly regarded as a potential sign of raised intracranial pressure and therefore a sign of significant underlying pathology that necessitates further investigation. Current recommendations for neuroimaging in patients with HoW/SIH are neither consistent nor clear across headache guidelines published both nationally and internationally.

Aim

The main aim of this study was to ascertain the relevance of HoW and/or SIH as an indication for routine neuroimaging.

Methods

This study focused on clinically well patients with normal neurological examinations who had experienced HoW or SIH. Demographic and neuroradiological data were collected prospectively and the headache diagnosis was based on the International Classification of Headache Disorders.

Results

102/1065 patients reported either HoW and/or SIH. There were 57/102 (56%) females, 45/102 males (44%), and 33/102 (32%) of ethnic minority. Their age ranged between 5 and 17 years. 79/102 (77%) patients with HoW, 19/102 (19%) with SIH and 4/102 (4%) with both HoW and SIH. Headache diagnosis included migraine (n = 67; 66%), tension type headaches (n = 16; 16%), medication overuse headaches (n = 11; 11%), and sinusitis (n = 1; 1%). Neuroimaging was performed in 101/102 patients; imaging was normal for 97 scanned patients, and showed non-significant abnormality in the remaining 4 patients.

Conclusion

HoW or SIH among clinically well and neurologically normal paediatric patients was most likely to be caused by primary headaches, particularly migraine or tension type headaches. This symptom alone among healthy and clinically well children is not an indication for routine neuroimaging and is unlikely to be caused by sinister aetiologies.  相似文献   

20.

Background

In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort.

Aim

To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions.

Methods

Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m–4y 3m). All eligible patients (n = 24, years 2009–2014) were included.

Results

Mean age at SDR was 12y 4m (SD 4y 3m, range 2y 8m–19y 3m). Associated orthopaedic problems were frequent. Seven patients underwent scoliosis correction in the same session. Most improvements were reported in dressing (n = 16), washing (n = 12) and comfort (n = 10). Median score for satisfaction was 7 on a scale of 10 (range 1–9). SDR resulted in reduction of spasticity in leg muscles. In nine patients dystonia was recorded post-operatively, mainly in children with congenital malformations and syndromes.

Interpretation

SDR is a single event intervention that can improve daily care and comfort in non-walking children with severe spasticity, and can safely be combined with scoliosis correction. Despite the improvements, satisfaction is variable. Careful attention is necessary for risk factors for dystonia, which may be unmasked after SDR.  相似文献   

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