Cerebral Palsy and Dystonia

Section I: Evidence Summary Printer Friendly Version

Definitions

Dystonia is defined as a “movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures or both”. Dystonia is commonly seen in cerebral palsy (CP). When muscle contractions are sustained, individuals with CP and dystonia present with stiff postures and hypertonia (sometimes referred to as dystonic hypertonia), which is characterized by resistance to passive stretch of a muscle across a joint, present at low speeds, fluctuates with repeated stretches, and where tactile stimulus or purposeful movement of another body part triggers increased tone or increased involuntary postures. When muscle contractions are intermittent, dystonia typically presents with slow repetitive involuntary movements.  

Why is Dystonia in Cerebral Palsy Important?

Dystonia can cause interference in the following ways:

• Dystonia can impede motor function (including speech) through involuntary muscle contractions, limitations in muscle relaxation, and overflow (involuntary activation of unintended muscles during attempted voluntary movement)
• Dystonia can interfere with positioning for sitting and lying
• Dystonic postures and movement can be painful
• Dystonia can interfere with sleep
• Dystonia can result in high energy expenditure and malnutrition
• Dystonic postures/hypertonia can create challenges with caregiving
• Dystonia can impact wellbeing
• Dystonia can be associated with orthopedic deformities

Target Population

This Care Pathway is focused on pharmacological and neurosurgical interventions intended for individuals of all ages with CP and dystonia who are experiencing stiff dystonic postures, hypertonia, and slow involuntary movements that are causing interference, whether it is part of the predominant dystonic sub-type of dyskinetic CP or an additional feature of dominant spastic CP.  Management options directed towards rapid hyperkinetic movements (e.g., tetrabenazine) and recommendations specific to the emergency management of status dystonicus are beyond the scope of this document. The following definitions can be used to help guide interpretation of the more specific population addressed by each recommendation.

Definitions
Operational definitions pertaining to populations described in recommendations
Dystonia	A movement disorder characterized by “sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures or both. Dystonic movements are typically patterned, twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation.”
Generalized dystonia	Dystonia affecting all or most of the body (i.e., trunk and at least two other body parts)
Focal or segmental dystonia	Dystonia predominantly affecting a single limb or truncal part (focal) or a few adjacent body regions (segmental)
Dystonia causing interference	Dystonia interfering with the individual’s activities, causing some disruption of sleep, pain or discomfort, difficulties sitting, or challenges associated with ease of caregiving
Severe dystonia	Sustained dystonia that is severely restricting the individual’s activities, sleep, comfort, or ease of caregiving.
Dystonia not responsive to oral/enteral/transdermal dystonia medications	Individuals whose symptoms have not adequately responded to two or more optimized oral, enteral or transdermal dystonia medications (i.e., little to no meaningful progress towards individualized goals) or who develop intolerable side effects
Additional neurologic definitions
Spastic CP	A type of CP with increased tone associated with spasticity (“a velocity-dependent resistance of a muscle to stretch – resistance to externally imposed movement increases with increasing speed of stretch”)
Dyskinetic CP	A type of CP with “involuntary, uncontrolled, recurring, and occasionally stereotyped movements. The primitive reflex patterns predominate, and the muscle tone is varying”
Chorea	A hyperkinetic involuntary movement consisting of “an ongoing (continuous) random-appearing sequence of one or more discrete involuntary movements or movement fragments”. They frequently appear to be more rapid than dystonia.
Athetosis	A “slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture”
Myoclonus	A “sequence of repeated, often non-rhythmic, brief shock-like jerks due to sudden involuntary contraction or relaxation of one or more muscles”
Status dystonicus	“Status dystonicus is characterized by the development of increasingly frequent or continuous severe episodes of generalized dystonic spasms (contractions) and requires urgent (hospital) management” Status dystonicus is also referred to as dystonic storm or dystonic crisis.

Target Clinical Providers

Clinicians caring for individuals with CP and dystonia, often led by advanced care providers within multidisciplinary teams.

Assessment

Dystonia is a frequently overlooked element of the neurological presentation of CP. Therefore, it is recommended that a ‘dystonia’ assessment be routinely included in your neurological examination, assessing for fluctuating hypertonia, and using tactile stimulation or voluntary movement to trigger dystonia. More information can be found in Section III of this pathway in the Hypertonia Assessment Tool (HAT) link. On your examination, determine if the dystonia is generalized or focal/segmental and assess the severity. Consider a measure of severity if dystonia is causing interference (e.g., Barry Albright Dystonia Scale, Burke-Fahn-Marsden Dystonia Rating Scale, Dyskinesia Impairment Scale dystonia subscale, Global Dystonia Severity Rating Scale, Dyskinetic Cerebral Palsy Functional Impact Scale, or the Dystonia Severity Action Plan). Assess and monitor the impact of the dystonia on activities/function (e.g., seating tolerance), pain/comfort (including sleep), and ease of caregiving and whether management is required. It is important to jointly identify goals with the individual/family for management.

Management of Dystonia causing Interference

It is important to note that this Dystonia Care Pathway is based on conditional recommendations, as evidence is limited.  Shared decision making with the families is therefore essential.  The values and preference statements accompanying the recommendations reflect the need for flexibility and factors to consider when selecting a management approach that considers potential benefits and harms and that is aligned with the family’s values and preferences.  It is important to first optimize general health and introduce rehabilitation strategies to promote function, comfort, and participation prior to initiating pharmacologic or neurosurgical management.

Rehabilitation Strategies: Evidence specific to rehabilitation strategies is needed before formal recommendations can be developed. Consider the need for a therapy consultation. General principles of therapy include ensuring a focus on the functional priorities of the individual and areas that ultimately address participation in daily life (e.g., optimizing communication, mobility, self-care, symptom relief strategies).

Generalized Dystonia Management: With increasing severity of generalized dystonia, additional interventions may be required beginning with oral medications.  For oral medications (also can be given via a g-tube), individuals can experience different benefits and side effects and the introduction of the medication can be guided by response to an individualized trial.  Oral baclofen is suggested as a first-line option. Trihexyphenidyl and benzodiazepines should not be used routinely but can be considered as second-line options following a favourable response to a trial.  Medical cannabis is not suggested, as side effects appear to outweigh benefits. Levodopa may be used as part of a diagnostic evaluation in cases where a dopa responsive dystonia is suspected. For individuals with severe dystonia, clonidine and gabapentin can be considered, especially for pain, sleep disruption, and seating intolerance. The individual’s response to medication should be monitored, and if there is no response after optimizing the dosage, the medication should be weaned slowly.

In the presence of more severe generalized dystonia that is not responsive to dystonia medications, more aggressive management, such as intrathecal baclofen (ITB) or deep brain stimulation (DBS), is suggested.  ITB involves placing a catheter into the fluid around the spinal cord to deliver the baclofen medication. DBS involves placing bilateral electrodes into a deep part of the brain (the globus pallidus internus (GPI) or less commonly the subthalamic nucleus (SN)) and stimulating this area. Both DBS and ITB involve care by a specialized health care team.

Status dystonicus, a health emergency involving rapid and severe increases in dystonia, requires urgent management. While this Care Pathway does not include recommendations specific to the management of status dystonicus, more information with links to helpful resources can be found in our guide in Section 3 (‘Status dystonicus: A quick reference guide for recognition and management’).

Focal or Segmental Dystonia Management: Botulinum neurotoxin type A (BoNT-A) intramuscular injections are suggested for individuals with CP and focal or segmental dystonia causing interference (i.e., dystonia is strongly present in a specific muscle or group or muscles). Consider targeting both the agonist/antagonist muscles around the joint(s) involved with the dystonic posture. Individuals with generalized dystonia and persistent focal postures may also consider BoNT-A, and those with focal or segmental presentations may consider a trial of oral/enteral/transdermal medications.

One of the important features of dystonia is that the severity can fluctuate.  This means that the amount of management required can vary and individuals with CP and dystonia should be re-evaluated on a regular basis by the health care team. Standardized outcome measures should be used to monitor the impact of dystonia on individualized goals, activities, pain/comfort (including sleep), caregiving, and quality of life, and whether changes in management are required.

How to interpret the recommendations

All recommendations included in this guideline (see Algorithm) are conditional in strength. Guidance for interpreting recommendations, based on the level of strength, is provided in the table below.

Guidance for interpretation of strong and conditional recommendations*
	Strong Recommendation	Conditional Recommendation
Wording in the guideline	We recommend…	We suggest…
For clinicians	Most individuals should receive the recommended course of action. Adherence to this recommendation according to the guideline could be used as a quality criterion or performance indicator. Formal decision aids are not likely to be needed to help individuals make decisions consistent with their values and preferences.	Recognize that different choices will be appropriate for different individuals, and that you help each individual and family arrive at a management decision consistent with their values and preferences. Decision aids may be useful in helping individuals making decisions consistent with their values and preferences. Clinicians should expect to spend more time with individuals and families when working towards a decision.
For individuals with CP and dystonia and their families	Most individuals in this situation would want the recommended course of action and only a small proportion would not	The majority of individuals in this situation would want the suggested source of action, but many would not.
*Adapted from Guyatt, G. H. et al. Going from evidence to recommendations. BMJ 336, 1049-1051, doi:10.1136/bmj.39493.646875.AE (2008).

Algorithm

_{The purpose of this document is to provide health care professionals with key facts and recommendations for the assessment and treatment of children and youth with dystonia and cerebral palsy. This summary was produced by the AACPDM Dystonia Care Pathway Team (Darcy Fehlings (team lead), Brenda Agnew, Hortensia Gimeno, Adrienne Harvey, Kate Himmelmann, Jean-Pierre Lin, Jonathan W Mink, Elegast Monbaliu, James Rice, Emma Bohn, Yngve Falck-Ytter). The summary is based on a peer-reviewed systematic review. However, health care professionals should continue to use their own judgement and take into account additional relevant factors and context. The AACPDM is not liable for any damages, claims, liabilities, or costs arising from the use of these recommendations including loss or damages arising from any claims made by a third party.}

 _{© April 2024, AACPDM Care Pathways}

Section II: Published Evidence

Pharmacological and neurosurgical interventions for individuals with cerebral palsy and dystonia: a systematic review update and meta-analysis Authors: Emma Bohn, Katherine Goren, Lauren Switzer, Yngve Falck-Ytter, Darcy Fehlings First published: 27 March 2021 An earlier version of this manuscript was presented at the 2020 American Academy of Cerebral Palsy and Developmental Medicine Conference and was awarded the Gayle G. Arnold Award for best scientific paper.

Pharmacological and neurosurgical management of cerebral palsy and dystonia: Clinical practice guideline update Authors: Darcy Fehlings, Brenda Agnew, Hortensia Gimeno, Adrienne Harvey, Kate Himmelmann, Jean-Pierre Lin, Jonathan W. Mink, Elegast Monbaliu, James Rice, Emma Bohn, Yngve Falck-Ytter First published: 19 April 2024

Section III: Practical Tools

Plain Language Summary

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Tools for Classification & Assessment

• SCPE Reference & Training Manual (for identifying CP sub-types)
• Dyskinesia Toolkit
• Hypertonia Assessment Tool (HAT)

Tools for Monitoring

Dystonia

• Barry Albright Dystonia Scale
• Burke-Fahn-Marsden Dystonia Rating Scale
• Dyskinesia Impairment Scale
• Global Dystonia Severity Rating Scale

Individual Goals

• Canadian Occupational Performance Measure
• Goal Attainment Scale
• Performance Quality Rating Scale – Individualized

Pain/Comfort/Sleep

• Numeric Rating Scale
• PROMIS – Pain Interference Scale
• Faces Pain Scale – Revised
• Sleep-Wake Chart

Ease of Caregiving

• Caregiver Priorities and Child Health Index of Life with Disabilities

Quality of Life

• Caregiver Priorities and Child Health Index of Life with Disabilities
• KIDSCREEN-10 (see page 125-127)

Status Dysonicus Recognition & Management

• Status Dystonicus: A quick reference guide for recognition & management

Section IV: Acknowledgments Printer Friendly Version

Name	Institution	Location	Specialty Expertise
Guideline Panel
Dr. Darcy Fehlings	Holland Bloorview Kids Rehabilitation Hospital; Department of Paediatrics, University of Toronto	Toronto, ON, Canada	Developmental paediatrician
Dr. Yngve Falck-Ytter	Veteran Affairs North East Ohio Health Care System Case Western Reserve University	Cleveland, OH, USA	Methodologist
Brenda Agnew	N/A	Burlington, ON, Canada	Consumer representative
Dr. Hortensia Gimeno	Barts NHS Health and Queen Mary University of London, Wolfson Institute of Population Health, Centre for Preventive Neurology, London, UK	London, UK	Paediatric occupational therapist
Dr. Adrienne Harvey	Neurodisability and Rehabilitation, Murdoch Children’s Research Institute	Parkville, Vic, Australia	Paediatric physical therapist
Dr. Kate Himmelmann	Department of Pediatrics, Clinical Sciences, Sahlgrenska Academy, University of Gothenburg	Gothenburg, Sweden	Paediatric neurologist
Dr. Jean-Pierre Lin	Complex Motor Disorders Service, Evelina London Children’s Hospital Guy’s and St. Thomas’, NHS Foundation Trust; Women’s and Children’s Health Institute, Faculty of Life Sciences & Medicine, King’s Health Partners	London, UK	Paediatric neurologist
Dr. Jonathan Mink	Department of Neurology, University of Rochester	Rochester, NY, USA	Paediatric neurologist
Dr. Elegast Monbaliu	Neurorehabilitation Technology Lab KU Leuven Campus Brugge, Brugge, Belgium	Leuven, Belgium	Paediatric physical therapist
Dr. James Rice	Paediatric Rehabilitation Department, Women's and Children's Hospital	North Adelaide, Australia	Developmental paediatrician
Consumer Group
Brenda Agnew	N/A	Burlington, ON, Canada	Lived experience
Lisa Blumberg	N/A	New Haven, CT, USA	Lived experience
Kathleen Best	N/A	Ottawa, ON, Canada	Lived experience
Shoshana Goldberg	N/A	Toronto, ON, Canada	Lived experience
Yemina Goldberg	N/A	Toronto, ON, Canada	Lived experience
Lisa Waters	N/A	Atlanta, GA, USA	Lived experience
Jaime Winkler	N/A	Saskatoon, SK, Canada	Lived experience
Evidence & Administration Group
Dr. Darcy Fehlings	Holland Bloorview Kids Rehabilitation Hospital; Department of Paediatrics, University of Toronto	Toronto, ON, Canada	Developmental paediatrician
Dr. Yngve Falck-Ytter	Veteran Affairs North East Ohio Health Care System Case Western Reserve University	Cleveland, OH, USA	Methodologist
Emma Bohn	Holland Bloorview Kids Rehabilitation Hospital; Department of Paediatrics, University of Toronto	Toronto, ON, Canada	Research Assistant
Isabelle Caven	Holland Bloorview Kids Rehabilitation Hospital; Department of Paediatrics, University of Toronto	Toronto, ON, Canada	Undergraduate summer research student
Lauren Switzer	Holland Bloorview Kids Rehabilitation Hospital; Department of Paediatrics, University of Toronto	Toronto, ON, Canada	Research manager
Participants in External Review Process
Dr. John Andersen	Glenrose Rehabilitation Hospital Department of Pediatrics, University of Alberta	Edmonton, AB, Canada	Neurodevelopmental paediatrician
Dr. Giuliana Antolovich	Murdoch Children’s Research Institute Royal Children’s Hospital Melbourne	Parkville, Vic, Australia	Paediatrician
Dr. Bhooma Aravamuthan	Washington University School of Medicine	St. Louis, MO, USA	Paediatric movement disorders neurologist
Dr. Lynn Bar-On	Ghent University, Department of Rehabilitation Sciences	Ghent, Belgium	Physiotherapist
Dr. Mohan Belthur	Department of Child Health & Orthopedics, University of Arizona College of Medicine – Phoenix; Department of Orthopedics, Phoenix Children’s Hospital	Phoenix, AZ, USA	Paediatric orthopaedic surgeon
Dr. Alfred Peter Born	Rigshospitalet	Copenhagen, Denmark	Paediatric neurologist
Dr. Roslyn Boyd	Child Health Research Centre, Queensland Cerebral Palsy and Rehabilitation Research Centre, The University of Queensland	Brisbane, Qld, Australia	Physiotherapist
Erin Brandon	Holland Bloorview Kids Rehabilitation Hospital	Toronto, ON, Canada	Paediatric nurse practitioner
Dr. Annemieke Buizer	Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Rehailitation Medicine, Amsterdam Movement Sciences Emma Children’s Hospital, Amsterdam UMC	Amsterdam, Netherlands	Paediatric physiatrist
Dr. Leon Dure	University of Alabama at Birmingham	Birmingham, AL, USA	Pediatric neurologist
Dr. Hernan Gonorazky	The Hospital for Sick Children University of Toronto	Toronto, ON, Canada	Paediatric neurologist
Dr. Mark Gormley	Department of Physical Medicine and Rehabilitation, Gillette Children’s Specialty Healthcare	St. Paul, MN, USA	Paediatric physiatrist
Dr. Jan-Willem Gorter	CanChild Centre for Childhood Disability Research, Department of Pediatrics, McMaster University; McMaster Children’s Hospital	Hamilton, ON, Canada	Paediatric physiatrist
Dr. Anne Kawamura	Holland Bloorview Kids Rehabilitation Hospital	Toronto, ON, Canada	Developmental paediatrician
Dr. Michael Kruer	Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children’s Hospital	Phoenix, AZ, USA	Paediatric neurologist
Dr. Anne Koy	University Hospital Cologne Department of Pediatrics, University of Cologne	Cologne, Germany	Paediatric neurologist
Jennifer Lewis	Kids Rehab, The Children’s Hospital at Westmead	Sydney, NSW, Australia	Physiotherapist
Dr. Claire Lundy	Royal Belfast Hospital for Sick Children	Belfast, UK	Consultant in paediatric neurology and neurodisability
Dr. Amber Makino	Holland Bloorview Kids Rehabilitation Hospital	Toronto, ON, Canada	Developmental paediatrician
Dr. Anna McCormick	Children’s Hospital of Eastern Ontario Department of Pediatrics, University of Ottawa	Ottawa, ON, Canada	Paediatric physiatrist
Dr. Scott McLeod	Department of Pediatrics, University of Calgary	Calgary, AB, Canada	Developmental paediatrician
Dr. Ronit Mesterman	Department of Pediatrics, McMaster University	Hamilton, ON, Canada	Paediatric neurologist & developmental paediatrician
Dr. Santosh Mordekar	Sheffield Children’s Hospital	Sheffield, UK	Paediatric neurologist
Dr. Roser Pons	Aghia Sofia Children’s Hospital; National and Kapodistrian University of Athens	Athens, Greece	Paediatric neurologist
Dr. Simon Schless	ALYN Paediatric and Adolescent Rehabilitation Hospital	Jerusalem, Israel	Physiotherapist
Dr. Jordan Sheriko	Department of Pediatrics, Dalhousie University	Halifax, NS, Canada	Paediatric physiatrist
Nadine Smith	Departments of Physiotherapy and Kids Rehab WA, Perth Children’s Hospital	Nedlands, WA, Australia	Physiotherapist
Dr. Kirsty Stewart	The Children’s Hospital at Westmead	Sydney, NSW Australia	Occupational therapist
Dr. Ellen Wood	Department of Pediatrics, Dalhousie University	Halifax, NS, Canada	Paediatric neurologist