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.

carolina.baeza-velasco@u-paris.fr

Thanks Gracias Merci