Understanding Phelan McDermid Syndrome and How ABA Therapy Can Support a Child’s Growth

Phelan McDermid Syndrome, often called PMS, is a rare neurodevelopmental condition that impacts children in many different ways. Because the symptoms often resemble other conditions, families may spend years searching for answers before receiving an accurate diagnosis. For one Laurel Life family, this journey was filled with questions, evaluations, and uncertainty. Today, their daughter Tara is making meaningful progress with the support of Applied Behavior Analysis, or ABA therapy, through our IBHS team.

With permission from her family, we are grateful to share her story. Our hope is that it raises awareness of this rare condition and gives other families encouragement as they navigate their own path.

What Is Phelan McDermid Syndrome

Phelan McDermid Syndrome occurs when there is a deletion or variation on chromosome 22q13. This genetic change can influence a child’s development in many ways. Common challenges include:

• Delays in communication or language

• Difficulties with motor coordination

• Low muscle tone

• Sensory processing differences

• Problems with balance

• A reduced response to pain

• Difficulty managing behavior or emotions

Because these symptoms can look similar to Autism Spectrum Disorder, Cerebral Palsy, or Fragile X Syndrome, PMS is often misunderstood. Many children have more than one diagnosis, and research suggests that a large percentage also meet criteria for autism.

The only way to confirm PMS is through genetic testing. This is why many families, including Tara’s, spend long periods searching for answers.

Tara's Journey to Understanding Her Needs

Tara’s family first became concerned when she began losing skills she had already learned. Her speech changed, she struggled with tasks that used to be easy, and her balance and muscle strength declined. Her reactions to pain also shifted in ways that were difficult to understand.

Her parents acted quickly. They connected her with early intervention services, LIU programming, and multiple outpatient therapies. Even after an Autism Level 2 diagnosis, they felt that her symptoms did not fully match what they were seeing at home.

Further testing including neurological evaluations, EEG monitoring, MRI imaging, and genetic analysis eventually provided clarity. The results showed that Tara had Phelan McDermid Syndrome. While the diagnosis was emotional and overwhelming at times, it also helped her family better understand what she needed in order to thrive.

How ABA Therapy Became Part of Tara’s Support System

Like many parents, Tara’s family had heard mixed information about ABA therapy. They were hesitant at first, unsure if it would be a good fit for their daughter. After meeting with the Laurel Life ABA and IBHS team and learning how individualized and collaborative the approach could be, they chose to begin services.

More than a year later, they describe Tara as a completely different child in the best possible way.

Her ABA therapist, Stephanie, wanted to understand every aspect of Tara’s needs before creating a treatment plan. Because PMS is rare and research is limited, she reviewed available literature, consulted her supervisory team, and asked thoughtful questions to fully understand the family’s experiences.

Stephanie selected the ABLLS R assessment to understand Tara’s strengths and needs. This tool breaks skills into manageable steps, allowing therapy to start with foundational abilities and build upward. Sessions focused on communication, independence, emotional regulation, and daily living skills. Every strategy was adapted to Tara’s pace, interests, and learning style.

Small wins were celebrated. Plans were adjusted when needed. Tara’s parents were included in every step, making therapy truly collaborative and family centered.

A Family’s Perspective on Tara’s Progress

Tara’s parents shared the following message, and their words reflect the heart of her journey.

“We can now say proudly that Tara has been in ABA for more than a year and it has helped her in every aspect of her life. She is a completely different child than she was a year ago in the best way possible. We are so grateful we gave ABA through Laurel Life a chance and are so appreciative of her therapist, who does everything she can to help Tara in every way she can.”

Their message is a reminder that progress is possible and that no family is alone in this process.

A Clinician’s Reflection on Tara’s Growth

Stephanie, Tara’s Behavior Analyst, shared her perspective on their work together.

“My first goal was to listen so I could understand the family’s concerns, their hopes, and their vision for their daughter’s growth. Collaboration has been at the center of everything. Tara’s progress reflects her hard work, her family’s dedication, and the shared effort of everyone who supports her.”

Why Awareness of PMS Matters

PMS is rare and often difficult to diagnose. Many families spend years navigating confusion, appointments, and unanswered questions before receiving the clarity they deserve. Raising awareness helps more families receive earlier assessment, accurate information, and supportive services like ABA and IBHS.

Awareness also promotes understanding, reduces stigma, and creates a sense of community for families who may feel isolated during their journey.

Tara’s story shows the power of early intervention, teamwork, and individualized care that honors a child’s strengths and needs.

Laurel Life’s Commitment to Supporting Children With Complex Needs

At Laurel Life, we believe every child deserves support that feels personal, respectful, and hopeful. Our ABA and IBHS teams provide trauma informed and relationship centered services that help children build skills, grow their independence, and experience success at home, at school, and in the community.

For children with rare conditions like Phelan McDermid Syndrome, we work closely with families, medical providers, and educational teams to create plans that truly fit each child.

If your family is seeking guidance or services, we are here to help. call us at 717 375 1517 or email IBHS@LaurelLife.com for more information.

*The child’s name has been changed to protect the family’s privacy and confidentiality.*