What is this Program?
A Program to Support the Diagnosis of neurodevelopmental disorders and movement disorders that start in early childhood.
Neurodevelopmental disorders and movement disorders that starts in early childhood
It focus on providing physicians with a Program to Support the Diagnosis named “Movimente”, an initiative that offers a diagnostic panel that includes 121 genes related to neurodevelopmental disorders and movement disorders that starts in early childhood but can remain undiagnosed for years.
Among the analyzed genes is the DOPA decarboxylase (DDC) gene, that encodes the AADC enzyme. The AADC deficiency is a rare genetic disorder, of autosomal recessive inheritance, which diagnoses can be confirmed by identifying mutations in both alleles of the DDC gene. 1
Lack of AADC enzyme leads to a severe combined deficiency of neurotransmitters serotonin, dopamine, norepinephrine and adrenaline. 1,2
Patients with AADC Deficiency can present delayed neuropsychomotor development, hypotonia, disorders of movement (mainly involuntary eye movements and dystonia), weight and height deficit, dysautonomic syndrome symptoms, among others. 1,2
To whom is this program indicated for?
In cases any of these criterias are presented, the program will help define a diagnosis.
Delayed neuropsychomotor development with central characteristics, noticed in early childhood, followed by at least one of the following:
- Disorders of movement, fixed or intermittent, characterized by chorea, choreoathetosis, athetosis, myokymias, dyskinesia or dystonia, excluding ataxia, tics or stereotypes;
- Dysautonomia (sweating, salivation, thermal instability);
- Oculogyric crises.
To whom is this program NOT indicated for?
In cases any of these criterias are presented, the program will NOT help define a diagnosis.
- Existence of obvious environmental causes for these disorders (eg hypoxic-ischemic encephalopathy, meningoencephalitis, and others);
- Autism spectrum disorder not preceded by altered neurodevelopment and without movement disorder;
- Delayed neuropsychomotor development exclusively with peripheral characteristics;
- Brain imaging tests showing severe malformations of the nervous system (e.g. patterns strongly suggestive of leukodystrophy, mitochondrial disease, and others).
The genetic analysis technique used in the Movimente Program is called NGS (Next Generation Sequencing)
Next Generation Sequencing (NGS) is currently the most effective technique in the diagnosis of genetic diseases, offering the best cost-benefit and delivering more agile and accurate results.
Diagnostic support is offered throughout Brazil
The program counts with Mendelics as partner, being the first and leading genomics laboratory specialized in NGS in Latin America.
Mendelics has the largest capacity sequencing facilities in Latin America, a team of over 250 collaborators, pioneering technical and analytical processes, and has tested over 400,000 patients since its founding. Mendelics’ 27 Pharmaceutical diagnostic projects and multiple international accreditations (CAP, ISO-15189, PALC) exemplify it’s focus on quality of service and reliability.
With the Collection Kit that can be sent to anywhere in Brazil, the analysis occurs through DNA extraction, usually from buccal mucosa (swab).
Collection utilizing Oral Swab
The buccal mucosa sample collection is as efficient as the blood one, but causing no discomfort to the child. The only need is to do a mouth hygiene and fasting for 30 minutes before the sample collection. The stability of the buccal mucosa sample lasts around 30 days at room temperature, however, we recommend sending the sample to the laboratory as soon as possible, as the test result depends on the arrival of the sample at the lab.
How to participate in the program?
If you are a physician and have patients with neurodevelopmental disorders and movement disorders that start in early childhood, request your inclusion in the program along with a collection kit by sending an email to email@example.com informing your professional data to the registration.
How to request a test?
For the exam to be performed, the doctor must contact the program representative that visits them and request a voucher to register the patient in the program. With the voucher in hand and the sample already collected, the doctor must register the patient and the sample in the clientes.mendelics.com.br system, using a login previously created by Mendelics.
In this system, you will be able to choose the exam, add important information about the patient’s health and, at the end of the process, a posting code will be available to send the sample back to Mendelics at no costs.
For more information, contact us sending an e-mail to firstname.lastname@example.org and talk with our diagnostic support team.
MOVING TO EARLY DIAGNOSIS!
BR-AADC-0230 – November 2020
References: 1. Wassenberg T, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.
2. Himmelreich N, et al. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127(1):12-22.