Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)

Korábbi kezelés

• Patient with concomitant diseases judged for which the experimental treatment with Li + could compromise tolerance ;
• Initiation of co-occurring cognitive-behavioural therapy that is specifically focused on autistic symptoms within 6 weeks prior to inclusion;
• Any introduction of psychotropic drugs within 2 weeks prior to trial, including neuroleptics, monoamine oxidase inhibitors, stimulants, antidepressants. For neuroleptic drugs and Fluoxetine, this delay should be 4 weeks prior to the trial;
• Serious behavioural problems or refusal to take medication that does not allow for compliance;

Más betegség

• Cardiac pathology: Brugada syndrome or family history of Brugada syndrome, heart failure;
• Addison's disease;
• Unstable epileptic disease.
• History of allergy to Li+;
• Allergy to lactose, lactose being the sole diluent and excipient of the prepared form.

Laborértékek

• Hepatic or renal insufficiency (disturbed liver function tests, abnormal creatinine clearance);

Egyéb

• Unbalanced thyroid or diabetic pathology;
• Inability to perform blood tests to check lithemia when the patient is included.

• Children under 18 years of age
• Minimum weight of 20 kg for children aged 7 years old
• Patient with haplo deficiency SHANK3, i.e. carrier of a SHANK3 deletion (CNV) or a de novo truncating mutation in SHANK3 (Phelan McDermid syndrome);
• Total Social Responsiveness Scale - T score (SRS) of at least 66
• Patients of childbearing age who are sexually active must agree to use a highly effective form of contraception (estrogen-progestin or progestin-only contraception, or an intrauterine device, or contraceptive abstinence).
• Affiliation to a social security system
• Signature of the consent by the holders of parental authority
• Non-participation in another clinical trial
• Diagnosis of Autism Spectrum Disorders (DSM-5 criteria) confirmed by Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Scale (ADOS-II)
• IQ Assessment
• Beta-HCG negative