Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life

NCT01367977 | Completed DMC

• 1 other identifier: 61/3528
• Study Type: observational
• Target: 21
• Locations: 1 country
• Sites: 1

Brief Summary

It is known that 33-50% of Classic and Hypermobile Ehlers-Danlos Syndrome patients eventually develop dysautonomia, otherwise known as "POTS" (Postural Orthostatic Tachycardia Syndrome). Some of these patients develop dysautonomia as a result of a retroflexed odontoid, Chiari 1 Malformation or cranial settling and the resulting basilar impression. Many Ehlers-Danlos patients suffer with the same symptomology with no evidence of a cause according to MRI imaging. It is the author's hypothesis that low-level External Communicating Hydrocephalus appears to be responsible for the constellation of autonomic and cranial nerve symptoms, and if present in the very young, an analysis of head circumference growth in the first 15 months of life should reflect abnormally rapid head growth, supporting this hypothesis.

Conditions

Ehlers Danlos Syndrome; External Hydrocephalus; Dysautonomia; Postural Orthostatic Tachycardia Syndrome; Venous Insufficiency

Keywords

Ehlers Danlos Syndrome; External Communicating Hydrocephalus; Dysautonomia; Postural orthostatic tachycardia syndrome; Chronic cerebrospinal venous insufficiency

Outcome Measures

Primary Outcomes (1)

• Measurement of Head Circumference in Ehlers-Danlos patients (retrospectively), between the ages of birth to 15 months of age.

  Measurements of head circumferences, weight and length of children (retrospectively), will be compared to "normals" as established by the U.S. Department of Health and Human Services, Centers for Disease Control and Prevention (CDC), 2008.

  Retrospectively, between patients' birth to 15 months of age

Study Arms (1)

Ehlers-Danlos patients

Patients with diagnosed or suspected Classic or Hypermobile Ehlers-Danlos Syndrome

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Classic or Hypermobile Ehlers-Danlos Syndrome with dysautonomia, found through social media forums, internet advertising, local support groups, physicians working with this subset of patients.

You may qualify if:

• Diagnosis, or suspected diagnosis of Classic or Hypermobile Ehlers-Danlos Syndrome and dysautonomia
• Must be able to present their head circumferences, weight and length for the first 15 months of their lives

You may not qualify if:

• Patients unable to present their head circumferences, weight and length for the first 15 months of their lives
• Patients with dysautonomia due to stroke of the brain stem

Sponsors & Collaborators

• Genetic Disease Investigators: lead

Study Sites (1)

POTS Care

Colleyville, Texas, 76034, United States

Location

Related Publications (4)

• Alvarez LA, Maytal J, Shinnar S. Idiopathic external hydrocephalus: natural history and relationship to benign familial macrocephaly. Pediatrics. 1986 Jun;77(6):901-7.

  PMID: 3714384 BACKGROUND

• Hakim A. Hypermobile Ehlers-Danlos Syndrome. 2004 Oct 22 [updated 2024 Feb 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1279/

  PMID: 20301456 BACKGROUND

• Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg Spine. 2007 Dec;7(6):601-9. doi: 10.3171/SPI-07/12/601.

  PMID: 18074684 BACKGROUND

• Kumar R. External hydrocephalus in small children. Childs Nerv Syst. 2006 Oct;22(10):1237-41. doi: 10.1007/s00381-006-0047-1. Epub 2006 Mar 23.

  PMID: 16555081 BACKGROUND

MeSH Terms

Conditions

Ehlers-Danlos Syndrome; Autonomic Nervous System Diseases; Postural Orthostatic Tachycardia Syndrome; Venous Insufficiency

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Nervous System Diseases; Orthostatic Intolerance; Primary Dysautonomias

Study Officials

• Diana L Driscoll, O.D.

  Genetic Disease Investigators

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 5, 2011
• First Posted: June 7, 2011
• Study Start: May 1, 2011
• Primary Completion: April 1, 2015
• Study Completion: April 1, 2015
• Last Updated: February 14, 2024

Record last verified: 2015-04

Locations

US (1)