carolina baeza -velasco autism, hypermobility and eds · connective tissue disorders = cns...
TRANSCRIPT
Carolina Baeza-Velasco
Autism, hypermobility and EDS
No conflicts of interest to disclose
Sin conflictos de interés a declarar
Pas de conflit d’intérêt à déclarer
Basic Schedule
Carolina Baeza-Velasco, PhD
• Evidence of the association between autism and hypermobility/EDS• Clinical illustrations of the association autism and hypermobility/EDS
Autism, hypermobility and EDS
Autism Spectrum Disorders (ASD)
• Etiologically and clinically heterogeneous group of neurodevelopmental conditions commencing in early childhood.
• Characterized by:
Impairments in social communications and interactions
Restricted and repetitive behaviors
ASD and hypermobility?
Autistic manifestions expression in a hypermobile body
Examples:
Fehlow et Tennstedt (1985): report the case of an adolescent boy presenting with EDS classical type I in association with autistic symptoms.
Tantam et al. (1990) described three cases: two girls and one boy diagnosed with Asperger syndrome and coexisting with lifelong ligamentous laxity and muscular incoordination suggesting a “Marfan-like” disorder of connective tissue.
Sieg (1992) presented the case of an adolescent boy with impaired social skills, language delays, mannerisms,restricted interests and other symptoms indicatives of an ASD and EDS classic type.
Takei (2011) reported the case of a 17 years-old-boy with high-functioning autistic disorder and presenting at the physical examination a highly flexible fingers and toes, hypermobility of the joints and skin hyperelasticity. He and their mother had been diagnosed with EDS.
Case-reports:
ASD and hypermobility/EDS?
Children with ASD hadsignificantly greater jointmobility than their non-autistic peers .
ASD and hypermobility/EDS?Systematic studies:
Substantially increasedrisk of ASD in people with
EDS.(risk ratio 7.4; 95% confidence
interval 5.2-10.7)
Hypothesis about the link between ASD and hypermobility related disorders
Common genetic milieu?
Hypothesis about the link between ASD and hypermobility related disorders
Common genetic milieu?
Connective tissue disorders = CNS abnormalities(Tamtam, 1990)
Hypothesis about the link between ASD and hypermobility related disorders
Common genetic milieu?
Connective tissue disorders = CNS abnormalities(Tamtam, 1990)
Hypothesis about the link between ASD and hypermobility related disorders
Common genetic milieu?
Connective tissue disorders = CNS abnormalities
Brain heterotopias
Inmunological dysfunction and endocrine dysregulation
(Tamtam, 1990)
Hypothesis about the link between ASD and hypermobility related disorders
Common genetic milieu?
Connective tissue disorders = CNS abnormalities
Brain heterotopias
Inmunological dysfunction and endocrine dysregulation
(Tamtam, 1990)
Hypothesis about the link between ASD and hypermobility related disorders
(Tamtam, 1990)
Common genetic milieu?
Connective tissue disorders = CNS abnormalities
Brain heterotopias
Inmunological dysfunction and endocrine dysregulation
Indirect link(Tamtam, 1990)
Connective tissue abnormalities alter motor development and propioception
poor acquisition of non-verbal communication skills
autistic traits (e.g. impairments in social interactions)
hEDS-HSDh
Environmental stressors, e.g.:• Bullying/rejet experiences• Lack of recognition/treatment of hEDS/HSDh
Dysautonomia
Joint hypermobility
Muscle hypotonia
Pain
Fatigue
Attention déficitPerceptual problems
Proprioception imp.
Low perceivedself-competence, Low self-esteem
Déficit de habilidades
sociales
Possible relationships between some features of hEDS/HSDs might contributing to neurodevelopmental disorders.
(Baeza-Velasco, Sinibaldi and Castori, 2018).
hEDS-HSDh
Environmental stressors, e.g.:• Bullying/rejet experiences• Lack of recognition/treatment of hEDS/HSDh
Dysautonomia
Joint hypermobility
Muscle hypotonia
Pain
Fatigue
Attention déficitPerceptual problems
Proprioception imp.
Challeging behaviors in response to:• Propioception seeking• Avoidance of dysautonomia symptoms• Pain
Low perceivedself-competence, Low self-esteem
Distorted body schema
Poor motor control Clumsiness
Possible relationships between some features of hEDS/HSDs might contributing to neurodevelopmental disorders.
(Baeza-Velasco, Sinibaldi and Castori, 2018).
Poor social competences
hEDS-HSDh
Environmental stressors, e.g.:• Bullying/rejet experiences• Lack of recognition/treatment of hEDS/HSDh
Dysautonomia
Joint hypermobility
Muscle hypotonia
Pain
Fatigue
Attention déficitPerceptual problems
Proprioception imp.
Challeging behaviors in response to:• Propioception seeking• Avoidance of dysautonomia symptoms• Pain
Low perceivedself-competence, Low self-esteem
Poor social competences
ESSENCE
Learningdisorders
DCD
ADHD
Autistic-likeconditions
DAMP
Anxiety/mooddisorders
Distorted body schema
Poor motor control Clumsiness
Possible relationships between some features of hEDS/HSDs might contributing to neurodevelopmental disorders
(Baeza-Velasco, Sinibaldi and Castori, 2018).
hEDS/HSDs: hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. ADHD: attention deficit/hyperactivity disorder. DCD:developmental coordination disorder. DAMP: deficits in attention, motor control and perceptual abilities (Gillberg, 1982). ESSENCE: earlysymptomatic syndromes eliciting neurodevelopmental clinical examinations (Gillberg, 2010).
ASD HSD/hEDS
Similarities between• Etiologically heterogeneous
• Diagnosis remains clinical
ASD HSD/hEDS
Similarities between• Etiologically heterogeneous
• Diagnosis remains clinical
• Usually appears in childhood
• Clinical hetereogeneity
ASD HSD/hEDS
Similarities between• Etiologically heterogeneous
• Diagnosis remains clinical
• Usually appears in childhood
• Long-lasting and potentially highly disabling
• Important degree of comorbidity
• Several phenotipical features …
• Clinical hetereogeneity
Several phenotipical features …
Important degree of comorbidity
Sim
ilarit
ies
Baeza-Velasco, Hamonet, Baghdadli & Brissot, 2016
Tim, 12 y/o. Referred to the Department of Rehabilitation Medicinedue to motor problems
• Motor problems in early childhood: toe-walking, poor stability, tonic control and regulation,difficulties in object assembling, clumsiness.
• Psychologic/psychiatric reports: - failure to respond to his name and random eye contact when he was a toddler,- restricted interests and stereotypic behaviors, - social withdrawal and lack of initiative to share enjoyment, - preference to stay in lying position at the park rather than to play, - food selectivity, - auditory and tactile hypersensitivities, altered temperature sensitivity,- high anxious manifestations for small minimal injury,- learning difficulties (handwriting, attention, memory)- IQ =113 (normal),- bullied at school, school phobia and depressive symptoms
From medical records :
Diagnosis : pervasive developmental disorder not otherwise specified (PDD-NOS) DSM-IV
Tim, 12 y/od. Referred to the Department of Rehabilitation Medicinedue to motor problems
• Motor problems in early childhood: toe-walking, poor stability, tonic control and regulation, difficulties in object assembling, clumsiness.
• Psychologic/psychiatric reports: - failure to respond to his name and random eye contact when he was a toddler.- restricted interests and stereotypic behaviors, - social withdrawal and lack of initiative to share enjoyment, - preference to stay in lying position at the park rather than to play, - food selectivity, - auditory and tactile hypersensitivities, altered temperature sensitivity,- high anxious manifestations for small minimal injury,- learning difficulties (handwriting, attention, memory)- IQ =113 (normal),- bullied at school, school phobia and depressive symptoms.
From medical records :
Diagnosis : pervasive developmental disorder not otherwise specified (PDD-NOS) DSM-IV
also seen in HSD/hEDS
Physical exploration at the rehabilitation department:
Main complaints: severe articular and muscular pain, chronic fatigue and gait problems.Others:- Beighton score 8/9- recurrent sprains and blocks- thin skin, abnormal scarring- easy bruising- cutaneous hypersthesia- dysautonomia symptoms- proprioceptive impairment - respiratory problems (dyspnea, respiratory blockages, recurrent affections of the upper
airways)- oral and GI problems (gastroesophageal reflux, dental problems, recurrent mouth ulcers), - sensory problems (hyperacousis, tinnitus, transitory decrease of hearing, hyperaesthesia,
hyperosmia, exophoria) - headaches- mother diagnosed with fibromyalgia.
Diagnosis : hEDS Physician : « the interpretation (autism) of their signs and symptoms was not made in light of the diagnosis of EDS since it had not yet been considered… »
Overlap? Comorbidity?
• motor difficulties• tissue fragility• sensory hypersensitivity• autonomic dysfunction• proprioceptive impairments
“autistic” behaviors
preference to stay in lying position rather than to play in the parc
- ASD point of view : lack of interest (in other children, in play with others..)
- hEDS point of view : might be related to chronic fatigue and/or dysautonomia.
Tim’s behaviors:
failure to respond to his name and a random eye contact when toddler
- ASD point of view : typical in ASD!
- hEDS point of view : not surprising considering the difficulties in spatial localization, history of transitory decrease of hearing, hyperacusis…
In more severe cases of autism…
Nicolas: severe autism, intellectual disability, no functional language, high level of aberrant behaviors especially self-injuries (pain?), recently diagnosed with EDS (hypermobility, recurrent sprains, skin abnormalities...).
La Salpetrière, Guinchat et al.
Awareness of the connection between ASD and hypermobility related disorders is useful to identify pain in patients in which is extremely challenging to screen it. Management strategies for complex cases???
Reduction of auto and heteroagressive behaviors after using compression
garments
less pain?improved propioception?
Sample : 14 patients with severe autism (8-15 y/o) and proprioceptive dysfunction (7 withcomorbid GJH) hospitalized for major challenging behaviors.
Method : patients wear compressive garments (CG) for al least 1h per day for 6 weeks.Assessments: Aberrant Behavior Checklist, Sensory integration (Dunn questionnaire) and posturalsway and motor performance using a self-designed motricity path at baseline, 2 and 6 weeks.
Guinchat V, Vlamynck E, Diaz L, Chambon C, Pouzenc J, Cravero C, Baeza-Velasco C, Hamonet C, Xavier J, Cohen D.
Results:
• Significant reduction of aberrant behaviors(irritability, hyperactivity, lethargy) at 2 weeks,persisting at 6 weeks.
• Postural control in dorsal and profile positions wassignificantly improved between before and afterwearing the CG (p < .05). Motor performance wasalso significantly improved.
• No changes were observed in Dunn sensory scores.
• The treatment was generally well-tolerated.
Promising results. Studies with a design RCT are needed.
Conclusions
• Increase awareness about the association between autism and hypermobility related disorders (HRD) in order to promote early detection and referral.
• Hypermobility may alerts about pain in populations with limited possibilities of expression.
• More research is needed! - to confirm the link between ASD and HRD- to elucidate its etiology and clinical significance- to identify the most appropriate treatments for these mixed cases.
Dr R. Brissot, Dr V. Guinchat, Prof D. Cohen, M R. Polanco, Dr L. Diaz, Prof C. Hamonet, patients, and you for your attention.
Thanks Gracias Merci