Related Experiment Video
Updated: Feb 7, 2026
Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
Published on: April 22, 2015
Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary
Caterina Piedimonte1, Roberta Penge1, Silvia Morlino2
1Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.
Insights
Children with hereditary connective tissue disorders (HCTDs) often show neurodevelopmental issues like developmental coordination disorder (DCD). DCD patients may have joint hypermobility, but HCTDs more significantly impact quality of life.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Joint hypermobility (JH) is a common trait linked to neurodevelopmental disorders.
- Hereditary connective tissue disorders (HCTDs) can affect neurodevelopment, but manifestations are unclear.
- Developmental Coordination Disorder (DCD) is frequently associated with JH.
Purpose of the Study:
- To investigate neurodevelopmental profiles in children with HCTDs.
- To compare neurodevelopmental features between children with HCTDs and DCD.
- To determine the prevalence of neurodevelopmental comorbidities in HCTDs.
Main Methods:
- Compared 23 children with HCTDs (including hypermobile Ehlers-Danlos syndrome) to 23 age/sex-matched children with DCD.
- Administered 14 psychometric tests covering motor, cognitive, executive-attentive, and emotional-behavioral functions.
- Assessed generalized JH and HCTD diagnoses.
Main Results:
- In the HCTD group, 30% had DCD, 22% had learning disabilities, and 13% had ADHD; none had cognitive delay.
- In the DCD group, 17% had generalized JH, and none had HCTDs.
- DCD patients exhibited more motor/coordination issues, while HCTD patients reported lower quality of life due to somatic and behavioral symptoms.
Conclusions:
- HCTDs are associated with a high rate of neurodevelopmental comorbidities, warranting clinical attention.
- The neurodevelopmental impact of connective tissue dysfunction in DCD requires further investigation.
- This study provides a comprehensive neurodevelopmental overview of HCTDs compared to DCD.
Abstract:
Joint hypermobility (JH) is a common, though largely ignored physical trait with increasing clinical reverberations. A few papers suggest a link between JH and selected neurodevelopmental disorders, such as developmental coordination disorder (DCD). JH is also the hallmark of various hereditary connective tissue disorders (HCTDs). Children with HCTDs may present abnormal neurodevelopment but its manifestations remain undetermined. This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys-Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age- and sex-matched children with DCD (group 2). All underwent 14 different psychometric tests exploring motor, cognitive, executive-attentive, and emotional-behavior features. In group 1, 30%, 22%, and 13% patients presented DCD (with or without dysgraphia), learning disabilities, and attention deficit-hyperactivity disorder, respectively. None had cognitive delay. In group 2, 17% patients presented generalized JH and none had HCTDs. DCD children presented more motor and coordination troubles than HCTDs patients, while quality of life of children with HCTDs resulted more deteriorated due to somatic manifestations and behavioral traits. This study presents the full overview of neurodevelopmental attributes in HCTDs, and compares with standardized tools the neurodevelopmental profile of children with DCD and HCTDs. While the high rate of neurodevelopmental comorbidities in HCTDs deserves attention, the impact of a dysfunctional connective tissue in children with a primary diagnosis of DCD needs more research.
More Related Videos
09:58Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
Published on: June 27, 2020
06:16Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting
Published on: June 6, 2020
Related Concept Videos
01:28Disorders of the Nervous Tissue
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
02:18Intrinsically Disordered Proteins
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
01:27Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
01:27Disorders of Leukocytes
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
01:30Other Disorders of Digestive System