RARE FINDS: An evidence based early motor intervention approach for young children with rare disease

Not Applicable

• Conditions: Neurological - Other neurological disorders; Rare Disease; Physical Medicine / Rehabilitation - Physiotherapy; Human Genetics and Inherited Disorders - Other human genetics and inherited disorders; Musculoskeletal - Other muscular and skeletal disorders; Cardiovascular - Other cardiovascular diseases

• Registration Number: ACTRN12624000579594
• Lead Sponsor: Curtin University

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2024-05-07
• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: ot yet recruiting
• Sex: All
• Target Recruitment: 3

Inclusion Criteria

1) children aged birth to five years old (by the time the study is completed);
2) live within a 50-kilometre radius of the Perth central business district (CBD) in Western Australia;
3) the child’s primary caregivers must be able to read and understand English without the use of an interpreter;
4) children must not currently be receiving therapy services funded by the Australian National Disability Insurance Scheme (NDIS) or other federal or state government funded scheme;
5) demonstrate significant developmental delay and/or regression as well as having received a diagnosis of a rare disease (RD), genetic or chromosomal abnormality by a medical practitioner or specialist or evidence of at least one of the risk factors commonly associated with rare disease (RD)

Rare disease are defined as those rare diseases with a prevalence rate of less than 1:2000. Risk factors commonly associated with rare disease include the following:
- Abnormal brain Magnetic Resonance Imaging (MRI) findings
- Abnormal muscle tone including hypertonia, hypotonia, ataxia, dystonia and/or spasticity
- Congenital malformations or anomalies including craniofacial anomalies
- Diagnosed hearing and/or visual impairment
- Feeding difficulty and/or Failure to thrive (FTT)
- Hydrocephalus or Microcephaly
- Musculoskeletal anomalies i.e. short stature, limb deformity, spinal deformity
- One or more birth defect
- Proximal and/or distal muscle weakness or muscle atrophy or myopathy
- Prenatal Intrauterine Growth Restriction (IUGR)
- Systematic illness i.e. cardiovascular problems, metabolic disorders

Exclusion Criteria

1) children with a diagnosis that is not considered a RD i.e. those diseases with a prevalence rate of greater than 1:2000 such as cerebral palsy or down syndrome (this is an important part of our exclusion criteria)
2) children who are medically unstable or have been advised against participating in therapy by their primary physician

Study & Design

• Study Type: Interventional
• Study Design: Not specified