Amniocentesis provides a sample of amniotic fluid that can be used to screen for sequence variants or chromosomal variants, whereas samples obtained through chorionic villus sampling can only be used to detect major chromosomal abnormalities (such as trisomy 21), making chorionic villous sampling less relevant in the context of diagnosing L1 syndrome (which is often caused by sequence variants). Amniocentesis (typically performed between 15 and 18 weeks of pregnancy) has a 1% risk of complications for mother and fetus, including miscarriage, while chorionic villus sampling (typically performed between 10 and 12 weeks of pregnancy) has a 2% risk of complications including miscarriage. Mothers carrying a fetus with suspected L1 syndrome will often elect to undergo amniocentesis despite its risk, rather than waiting to pursue lower-risk genetic testing after their child is born, because prenatal diagnostic results can inform considerations to terminate the pregnancy.For any child born with multiple physical abnormalities, the first-line diagnostic test is chromosomal microarray. Management
To know the extent of the disease and the required needs of an individual diagnosed with L1 syndrome, some tests are recommended, including: Head imaging study, Complete neurologic evaluation, Developmental evaluation, Evaluation for Hirschsprung disease if there is a history of constipation, Consultation with a clinical geneticist and/or genetic counselor. A proper management of the manifestations of the L1 syndrome involves a multidisciplinary(involving a team specialized in more than one medical fields) approach involving a team that works within these fields: pediatrics, child neurology, neurosurgery, rehabilitation, and clinical genetics.
Therapy services to address aphasia in MASA syndrome patients include one-on-one sessions with a clinician, group therapy, or even computer-based therapy, which is becoming more popular given its accessibility.Intellectual disabilities also contribute to the social difficulties faced by people with L1 syndrome, and can range from mild to severe depending on the persons location on the L1 syndrome spectrum. People with mild intellectual disability usually have an IQ around 50-70 (100 is the average) and are slower in all developmental areas, but they have no unusual physical characteristics and are able to blend in socially. Moderate intellectual disability characteristics include being able to maintain self-care with some support from other, travel to familiar places in the community, communicate in simple ways, and having an IQ around 35–50. Severe intellectual disability is often seen in people with X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) (on the L1 syndrome spectrum) and has several key characteristics including: the ability to understand speech but otherwise having very limited communication skills; the ability to learn daily routines and simple self-care, but need direct supervision in social settings and need family support to live in a supervised home setting. Depending on the severity of the intellectual disability, people with L1 syndrome will have varying levels of difficulty in adapting to their social environments and may need considerable support from others to complete day-to-day tasks.