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The SAMPI project Survey

July 5th, 2021

The SAMPI project is funded by the Temple Street Foundation to “Give a voice to the children and their families with Rare Diseases through Sand Play, Art, Music, Photovoice, Interviews and Survey. They are launching a Qualtrics web-based survey, and MDI are encouraging our members to participate in this survey.  For more details see below.

Researchers from the University College Dublin and Children’s Health Ireland at Temple Street are conducting a research project called the SAMPI. This project funded by Temple Street Foundation to “Give a voice to the children and their families with Rare Diseases through Sand Play, Art, Music, Photovoice, Interviews and Survey”.

As part of the inputs required for the project, we are launching a survey focused on measuring the Parental Needs Scale for Rare Diseases in Ireland. We are inviting eligible participants to take part in the survey. An information flyer is attached to provide you with a brief overview of the study, research team members, and an online survey link.

You can contact the Principal Investigator of the project, Dr Suja Somanadhan, via email at suja.somanadhan@ucd.ie, for more information about the project or if your child is aged between 4-16 years of age and would like to participate in any modalities of the project such as Sand Play, Music, Arts and Interviews.

SAMPI SURVEY_large_June SECOND update_

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Categories: Studies

1. Muscular Dystrophies

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Manifesting carrier of Duchenne
  • Congenital muscular dystrophy
  •     •  General
  •     •  MDC1A (merosin-deficient congenital muscular dystrophy)
  •     •  Rigid spine syndrome (RSS)
  •     •  Ullrich congenital muscular dystrophies
  •     •  Bethlem myopathy
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle types of muscular dystrophy (LGMD)
  •     •  General
  •     •  LGMD 1B (also known as Laminopathy)
  •     •  LGMD 1C (also known as Caveolinopathy)
  •     •  LGMD 2A (also known as Calpainopathy)
  •     •  LGMD 2B (also known as Dysferlinopathy)
  •     •  LGMD 2I
  • Ocular myopathies including ocularopharangeal muscular dystrophy

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core Myopathy
  • Congenital Fibre-type Disproportion Myopathy
  • Minicore (Multicore) myopathy
  • Myotubular or Centronuclear myopathy
  • Nemaline myopathy

4. Mitochondrial Myopathies

  • Mitochondrial Myopathies

5. Metabolic Disorders

  • Metabolic disorders (general)
  • McArdle’s Disease
  • Pompe’s Disease

6. Periodic Paralyses

  • Periodic Paralyses

7. Autoimmune Myositis

  • Polymyositis, Dermatomyositis and Sarcoid myopathy
  • Juvenile dermatomyositis
  • Inclusion body myositis

8. Spinal Muscular Atrophies

  • Severe (Type I)
  • Intermediate (Type II)
  • Mild (Type III)
  • Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

  • (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

  • Congenital myasthenic syndromes
  • Myasthenia Gravis

11. Friedreich’s Ataxia

  • Friedreich’s Ataxia

12. Other (Please Specify)

13. Unspecified