Jonathan W. Mink
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View article: A Timeline of Symptom Onset and Disease Progression in CLN3 Disease
A Timeline of Symptom Onset and Disease Progression in CLN3 Disease Open
Background CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in ea…
View article: The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease
The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease Open
Background The neuronal ceroid lipofuscinoses (Batten disease) are rare neurodegenerative lysosomal storage diseases principally of childhood onset and an autosomal recessive inheritance pattern. Cognitive regression is a hallmark of the d…
View article: Definition and Classification of Dystonia
Definition and Classification of Dystonia Open
Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its ap…
View article: The Wechsler Intelligence Scale for Children, fourth and fifth editions perform comparably in children with Batten Disease
The Wechsler Intelligence Scale for Children, fourth and fifth editions perform comparably in children with Batten Disease Open
View article: Thalamic and Visual Network Dysfunction Relates to Tremor Response in Thalamic Deep Brain Stimulation
Thalamic and Visual Network Dysfunction Relates to Tremor Response in Thalamic Deep Brain Stimulation Open
Whole-brain, network, and regional FC results demonstrate cerebello-thalamo-motor pathway dysfunction in ET. Robust FC differences in motor and visual regions related to VIM DBS outcomes. These results, employing rigorous quality control, …
View article: Impact of Cln3 Disease on Child Quality of Life and Family Function
Impact of Cln3 Disease on Child Quality of Life and Family Function Open
View article: Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy
Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy Open
Movement disorders are a core feature of CLN2-disease and follow a typical pattern of progression which is slowed by ERT. Identifying and treating movement disorders should become standard, especially given increased patient survival.
View article: Study protocol for measuring stigmatization in persistent tic disorders: development and validation of the Tourette discrimination-stigmatization scale
Study protocol for measuring stigmatization in persistent tic disorders: development and validation of the Tourette discrimination-stigmatization scale Open
Introduction Persistent Tic Disorders such as Tourette Syndrome are common neurodevelopmental disorders that are highly stigmatized. Many individuals with Persistent Tic Disorders experience peer rejection, loneliness, and self-stigma. Exp…
View article: Pharmacological and neurosurgical management of cerebral palsy and dystonia: Clinical practice guideline update
Pharmacological and neurosurgical management of cerebral palsy and dystonia: Clinical practice guideline update Open
Dystonia, typically characterized by slow repetitive involuntary movements, stiff abnormal postures, and hypertonia, is common among individuals with cerebral palsy (CP). Dystonia can interfere with activities and have considerable impact …
View article: Physician Approaches to the Pharmacologic Treatment of Dystonia in Cerebral Palsy
Physician Approaches to the Pharmacologic Treatment of Dystonia in Cerebral Palsy Open
Objective To determine how physicians approach pharmacologic dystonia treatment in people with CP and assess physician readiness to participate in a randomized trial comparing existing pharmacologic dystonia treatments. Methods We administ…
View article: Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) Open
View article: Reframing stigma in Tourette syndrome: an updated scoping review
Reframing stigma in Tourette syndrome: an updated scoping review Open
View article: Performance of a Tic Screening Tool (MOVeIT) in Comparison to Expert Clinician Assessment in a Developmental-Behavioral Pediatrics Clinic Sample
Performance of a Tic Screening Tool (MOVeIT) in Comparison to Expert Clinician Assessment in a Developmental-Behavioral Pediatrics Clinic Sample Open
Youth with intellectual and developmental disabilities typically have higher rates of tics and stereotypies compared to children with otherwise typical development. Differentiating between these two pediatric movement disorders can be chal…
View article: Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): An auditory evoked potential study of the duration-evoked mismatch negativity (MMN).
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): An auditory evoked potential study of the duration-evoked mismatch negativity (MMN). Open
View article: Issue Information
Issue Information Open
Movement Disorders Clinical Practice-is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/…
View article: Brief Youth Self-Report Screener for Tics: Can a Subscale of the Motor Tic, Obsession and Compulsion, and Vocal Tic Evaluation Survey (MOVES) Identify Tic Disorders in Youth?
Brief Youth Self-Report Screener for Tics: Can a Subscale of the Motor Tic, Obsession and Compulsion, and Vocal Tic Evaluation Survey (MOVES) Identify Tic Disorders in Youth? Open
Tics are unwanted, repetitive movements and sounds that frequently present during childhood. They are typically brief and purposeless, but can create significant distress for individuals, and often co-occur with other neuropsychiatric cond…
View article: Validation of the Diagnostic Interview Schedule for Children (DISC-5) Tic Disorder and Attention-Deficit/Hyperactivity Disorder Modules
Validation of the Diagnostic Interview Schedule for Children (DISC-5) Tic Disorder and Attention-Deficit/Hyperactivity Disorder Modules Open
Effective methods to assess mental disorders in children are necessary for accurate prevalence estimates and to monitor prevalence over time. This study assessed updates of the tic disorder and attention-deficit/hyperactivity disorder (ADH…
View article: Evaluation of New Instruments for Screening and Diagnosis of Tics and Tic Disorders in a Well-Characterized Sample of Youth with Tics and Recruited Controls
Evaluation of New Instruments for Screening and Diagnosis of Tics and Tic Disorders in a Well-Characterized Sample of Youth with Tics and Recruited Controls Open
Tics and tic disorders can significantly impact children, but limited screening tools and diagnostic challenges may delay access to care. The current study attempted to address these gaps by evaluating sensitivity and specificity of the Mo…
View article: Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics
Transitional Care for Young People with Movement Disorders: <span>Consensus‐Based</span> Recommendations from the <span>MDS</span> Task Force on Pediatrics Open
Background The International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics t…
View article: Clinical Characteristics of Children With Tourette Syndrome With and Without Sleep Disorder
Clinical Characteristics of Children With Tourette Syndrome With and Without Sleep Disorder Open
View article: Transition Services for Children and Young Adults with Movement Disorders: A Survey by the <scp>MDS</scp> Task Force on Pediatrics
Transition Services for Children and Young Adults with Movement Disorders: A Survey by the <span>MDS</span> Task Force on Pediatrics Open
Background There is currently very limited data related to transition services for movement disorders. Objectives Movement Disorders Society (MDS) Task Force on Pediatrics conducted a survey of current provision of transition for young adu…
View article: The Rise of Functional Tic-Like Behaviors: What Do the COVID-19 Pandemic and Social Media Have to Do With It? A Narrative Review
The Rise of Functional Tic-Like Behaviors: What Do the COVID-19 Pandemic and Social Media Have to Do With It? A Narrative Review Open
Background There has been a rise in explosive onset of tic-like behaviors during the COVID-19 pandemic. Historically, this is an uncommon phenomenology of functional movement disorders across all ages. Both the psychological burden of the …
View article: Top 10 Research Themes for Dystonia in Cerebral Palsy
Top 10 Research Themes for Dystonia in Cerebral Palsy Open
Dystonia in cerebral palsy (DCP) is a common, debilitating, but understudied condition. The CP community (people with CP and caregivers) is uniquely equipped to help determine the research questions that best address their needs. We develo…
View article: The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample
The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample Open
View article: The Wechsler Intelligence Scale for Children, Fourth and Fifth Editions Perform Comparably in Children with Batten Disease
The Wechsler Intelligence Scale for Children, Fourth and Fifth Editions Perform Comparably in Children with Batten Disease Open
View article: Risk Behaviors in Youth With and Without Tourette Syndrome
Risk Behaviors in Youth With and Without Tourette Syndrome Open
View article: A diagnostic confidence scheme for <scp>CLN3</scp> disease
A diagnostic confidence scheme for <span>CLN3</span> disease Open
Over the past 20 years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long‐term natural history studies. Using genotype and phenotype data from an ongoing natural …
View article: Neurophysiological Biomarkers to Optimize Deep Brain Stimulation in Movement Disorders
Neurophysiological Biomarkers to Optimize Deep Brain Stimulation in Movement Disorders Open
Intraoperative neurophysiological information could increase accuracy of surgical deep brain stimulation (DBS) lead placement. Subsequently, DBS therapy could be optimized by specifically targeting pathological activity. In Parkinson's dis…
View article: Bibliography
Bibliography Open
View article: Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients Open