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International Journal of Pediatric... Jan 2017To assess peripheral and central hearing in children with A-T.
AIM
To assess peripheral and central hearing in children with A-T.
METHOD
3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them.
RESULTS
Basic Audiological evaluation is of a limited value as the children are not co-operative. Sound field testing could not be done. Bilateral normal middle ear functions as reflected by Tympanometry and Acoustic Reflexes. Advanced Audiological evaluation including OAEs and ABR are more valuable in assessing hearing in children with A-T. Bilateral pass response at all test frequencies in DPOAEs. Abnormal ABR findings were obtained in the form of a delay in wave V latency more than 2 SD with subsequent increased in I-V interpeak latency with no significant interaural latency difference.
CONCLUSION
Consistent with bilateral normal peripheral hearing sensitivity with central hearing affection.
LIMITATIONS
The rarity of the disease, make it difficult to be applied on many cases.
Topics: Acoustic Impedance Tests; Ataxia Telangiectasia; Auditory Threshold; Child; Child, Preschool; Evoked Potentials, Auditory, Brain Stem; Hearing Loss; Hearing Loss, Central; Humans; Male; Otoacoustic Emissions, Spontaneous
PubMed: 28012542
DOI: 10.1016/j.ijporl.2016.11.012 -
Pediatric Neurology Dec 2016We studied the outcomes of movement disorders that were associated with childhood thalamic tumors.
BACKGROUND
We studied the outcomes of movement disorders that were associated with childhood thalamic tumors.
METHODS
We retrospectively reviewed 83 children with thalamic tumors treated at our institution from 1996 to 2013 to document the incidence and outcome of movement disorders. Magnetic resonance imaging was used to analyze the involvement of thalamic nuclei, and three instruments were used to rate the severity of the disorders.
RESULTS
Nine (11%) patients had one or more of the following movement disorders: postural tremor, resting tremor, ballism, dystonia, myoclonus, and athetosis. Median age at tumor diagnosis was seven years (range, 0.25 to 11 years), and the average age at movement disorder onset was eight years (range, 1.5 to 11 years). Movement disorders developed at a median of 1.5 months (range, 0 to 4 months) after surgical resection. The severity of the disorders was either unchanged or slightly improved during follow-up. The red nuclei were the only thalamic structures that showed tumor involvement in all nine patients.
CONCLUSIONS
No specific injury of the thalamic nuclei was associated with movement disorders in children with thalamic tumors, and the severity of these disorders did not change over time.
Topics: Brain Neoplasms; Child; Child, Preschool; Female; Humans; Infant; Male; Movement Disorders; Retrospective Studies; Thalamus; Time Factors; Treatment Outcome
PubMed: 27773422
DOI: 10.1016/j.pediatrneurol.2016.08.012 -
Paediatrics and International Child... Aug 2017Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of...
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls with the disorder are reported; they were aged 4 years, 5 years and 10 months. The 10-month-old infant who is one of the youngest patients reported with anti-NMDAR encephalitis worldwide, had MRI features suggestive of herpes simplex encephalitis (known to trigger anti-NMDAR encephalitis), but CSF PCR for herpes simplex was negative. All the patients presented with seizures, behavioural change, regression of speech, dystonia and choreo-athetosis. Anti-NMDAR antibodies were detected in all patients' sera and cerebrospinal fluid (CSF). Intravenous immunoglobulin, corticosteroids and rituximab were administered at different intervals. Cases 1 and 2 made a full recovery, but case 3 has mild motor and speech delay. Patients who present with encephalopathy, seizures and movement disorders should be tested for anti-NMDAR antibodies in serum and CSF in addition to being screened for herpes simplex encephalitis.
Topics: Adrenal Cortex Hormones; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Autoantibodies; Brain; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Infant; Magnetic Resonance Imaging; Receptors, N-Methyl-D-Aspartate; Rituximab; Treatment Outcome
PubMed: 27329512
DOI: 10.1080/20469047.2016.1191852 -
Neurology. Genetics Oct 2018To identify underlying genetic causes in patients with pediatric movement disorders by genetic investigations.
OBJECTIVE
To identify underlying genetic causes in patients with pediatric movement disorders by genetic investigations.
METHODS
All patients with a movement disorder seen in a single Pediatric Genetic Movement Disorder Clinic were included in this retrospective cohort study. We reviewed electronic patient charts for clinical, neuroimaging, biochemical, and molecular genetic features. DNA samples were used for targeted direct sequencing, targeted next-generation sequencing, or whole exome sequencing.
RESULTS
There were 51 patients in the Pediatric Genetic Movement Disorder Clinic. Twenty-five patients had dystonia, 27 patients had ataxia, 7 patients had chorea-athetosis, 8 patients had tremor, and 7 patients had hyperkinetic movements. A genetic diagnosis was confirmed in 26 patients, including in 20 patients with ataxia and 6 patients with dystonia. Targeted next-generation sequencing panels confirmed a genetic diagnosis in 9 patients, and whole exome sequencing identified a genetic diagnosis in 14 patients.
CONCLUSIONS
We report a genetic diagnosis in 26 (51%) patients with pediatric movement disorders seen in a single Pediatric Genetic Movement Disorder Clinic. A genetic diagnosis provided either disease-specific treatment or effected management in 10 patients with a genetic diagnosis, highlighting the importance of early and specific diagnosis.
PubMed: 30283815
DOI: 10.1212/NXG.0000000000000265 -
Movement Disorders Clinical Practice Aug 2021
PubMed: 34405103
DOI: 10.1002/mdc3.13254 -
Neurology Mar 2019This proof-of-concept feasibility trial examined the potential of the Cognitive Orientation to daily Occupational Performance Approach (CO-OP) to augment deep brain...
OBJECTIVE
This proof-of-concept feasibility trial examined the potential of the Cognitive Orientation to daily Occupational Performance Approach (CO-OP) to augment deep brain stimulation (DBS) outcomes in childhood-onset hyperkinetic movement disorders (HMD) including dystonia and dyskinetic cerebral palsy.
METHODS
This is a single case experimental design using multiple baseline as n-of-1 trial comprising 10 intervention sessions, with replications across participants (n = 10). Treatment focused on 3 participant-selected goals. Transfer was assessed on 2 additional untreated goals. Individuals enrolled were 6-21 years of age and had DBS in situ and sufficient manual ability. Primary outcome was functional performance change on the Performance Quality Rating Scale-Individualized (PQRS-i) measured before, during, and posttreatment, and at 3-month follow-up. Assessors of outcome were blinded to time of assessment, number of intervention session, and treatment allocation. To measure effect size, a nonoverlapping index, Tau-, was used. Feasibility measures were captured.
RESULTS
One participant withdrew before baseline assessment. Effect sizes of at least 0.66 were seen at both posttreatment and follow-up with all participants showing improvements in at least one trained goal in PQRS-i. Six participants improved on all 3 goals and 2 improved on 2 trained goals. Two children showed deterioration in one trained goal each. Transfer to untrained goals was observed in 3 participants for a total of 5 goals. CO-OP was feasible and acceptable to all participants.
CONCLUSION
A cognitive-based, task-oriented approach to support performance of personally relevant functional skills enabling participation is acceptable in childhood-onset HMD post-DBS. Further, preliminary efficacy to improve outcomes and proof of concept with CO-OP has been established in this population.
CLASSIFICATION OF EVIDENCE
This study provides Class IV evidence that for children with HMD who had undergone DBS, CO-OP improves performance of personally relevant functional skills.
Topics: Activities of Daily Living; Adolescent; Athetosis; Cerebral Palsy; Child; Chorea; Combined Modality Therapy; Deep Brain Stimulation; Dystonia; Feasibility Studies; Female; Humans; Hyperkinesis; Male; Myoclonus; Occupational Therapy; Patient Acceptance of Health Care; Patient Care Planning; Physical Functional Performance; Proof of Concept Study
PubMed: 30796136
DOI: 10.1212/WNL.0000000000007092 -
BMJ Case Reports Dec 2020A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and...
A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and pulmonary hypertension in the neonatal period requiring assisted ventilation, congenital hypothyroidism, mild hypotonia, recurrent respiratory infections, hypoxaemia requiring supplemental oxygen and nasogastric tube feeds. Physical examination showed tachypnoea, coarse bilateral breath sounds and mild hypotonia. Chest radiograph revealed multifocal pulmonary opacities with coarse interstitial markings and right upper lobe atelectasis. Following antibiotic therapy for suspected aspiration pneumonia, chest CT scan was performed and showed multiple areas of pulmonary consolidation and scattered areas of bilateral ground-glass opacities. Genetic studies showed a large deletion of chromosome 14q13.1-14q21.1, encompassing the NK2 homeobox 1 () gene consistent with a diagnosis of brain-thyroid-lung (BTL) syndrome. Our case highlights the importance of genetic studies to diagnose BTL syndrome in infants with hypothyroidism, hypotonia and lung disease.
Topics: Amoxicillin-Potassium Clavulanate Combination; Athetosis; Chorea; Chromosome Deletion; Chromosomes, Human, Pair 14; Congenital Hypothyroidism; Enteral Nutrition; Fluid Therapy; Genetic Testing; Humans; Hypoxia; Infant; Intubation, Gastrointestinal; Lung; Male; Muscle Hypotonia; Oxygen; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1; Tomography, X-Ray Computed
PubMed: 33370995
DOI: 10.1136/bcr-2020-238466 -
Developmental Medicine and Child... Jan 2016Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe...
AIM
Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG1 syndrome have often been mentioned but not characterized.
METHOD
We clinically assessed and analysed video recordings of eight patients with different mutations or copy number variations affecting the FOXG1 gene and describe the peculiar pattern of the associated movement disorder.
RESULTS
The age of the patients in the study ranged from 2 to 17 years old (six females, two males). They had severe epilepsy and exhibited a complex motor disorder including various combinations of dyskinetic and hyperkinetic movements featuring dystonia, chorea, and athetosis. The onset of the movement disorder was apparent within the first year of life, reached its maximum expression within months, and then remained stable.
INTERPRETATION
A hyperkinetic-dyskinetic movement disorder emerges as a distinctive feature of the FOXG1-related phenotype. FOXG1 syndrome is as an epileptic-dyskinetic encephalopathy whose clinical presentation bears similarities with ARX- and STXBP1-gene related encephalopathies.
Topics: Adolescent; Child; Child, Preschool; Epilepsy; Female; Forkhead Transcription Factors; Humans; Hyperkinesis; Male; Movement Disorders; Nerve Tissue Proteins; Syndrome
PubMed: 26344814
DOI: 10.1111/dmcn.12894 -
Cureus Feb 2022Paroxysmal dyskinesias are a rare group of episodic movement disorders characterized by any combination of dystonia, chorea, and athetosis. Patients usually present...
Paroxysmal dyskinesias are a rare group of episodic movement disorders characterized by any combination of dystonia, chorea, and athetosis. Patients usually present early in life with episodes of variable frequency involving the limbs or facial muscles that can be disabling. In this article, we present a case of paroxysmal non-kinesigenic dyskinesia that was responsive to the sodium-channel blocker carbamazepine. Recent data has revealed the role of voltage-gated sodium channels in the pathophysiology of the disease; hence, these disorders are referred to as channelopathies. Further advancements in genetic analysis have elucidated targets corresponding to these disorders, indicating a possible role for gene sequencing in helping to differentiate the subtypes of paroxysmal dyskinesias. This case report sheds light on the pathophysiology of the various channelopathies, especially the findings of cerebellar spreading depolarization and its implication in paroxysmal kinesigenic and non-kinesigenic dyskinesias.
PubMed: 35251868
DOI: 10.7759/cureus.21804 -
Clinical Genetics Jul 2021
Topics: Adult; Aged; Amino Acid Sequence; Athetosis; Cell Line, Tumor; Child; Chorea; Congenital Hypothyroidism; Female; HeLa Cells; Humans; Male; Middle Aged; Mutation; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1
PubMed: 33778944
DOI: 10.1111/cge.13961