Resource Library

Session recordings include topics on seizures, research priorities, adult life, physical therapy and more.

Video recordings including topics on legal issues, service dogs, data networks, IEPs, and more.

In 2018, families, researchers, clinicians, and individuals with PMS gathered for a 4-day conference in …

Presenter topics included Neropsychiatric Regression, Caregiver Stress, Behavior Management, Meet the MAC and Sleep for the first PMSF Virtual Conference in 2020.

PMSF 2022 Tax Form 990

EpilepsyMichigan Youtube Channel 0:00 Optimizing Your Telemedicine Visit Nancy McNamara MD, Pediatric Epileptologist, Assistant Clinical …

Rare Epilepsies: Getting the Best Care for Everyone Jacqueline French, MD, Chief Medical and Innovation …

Phelan-McDermid Syndrome Foundation, Inc. Independent Auditor’s Report, Financial Statements For the years ended December 31, 2023 and 2022

Phelan-McDermid Syndrome Foundation (PMSF) 990 Tax Form

2023 990 Tax Form Signature Page

Data has emerged that a subset of individuals with Phelan-McDermid syndrome (PMS) experience devastating psychiatric symptoms, such as regression, bipolar disorder, and catatonia.

We are seeking highly novel grant applications which explore an understudied area of Phelan-McDermid syndrome (PMS) research. Successful proposals will open new avenues of research in the field. Applications with clinical relevance will be preferred. Applications can be focused on any topic, but areas of special interest to families include: research across other neurodevelopmental disorders, development of tools for monitoring or managing symptoms, peripheral nervous system studies, identification of new drug candidates, implication of new cell types, and understanding of genes aside from SHANK3

We are seeking grant applications which bridge the gap between promising pilot laboratory data and the development of new therapeutics or new clinical assessments for Phelan-McDermid syndrome (PMS). Example areas of interest include but are not limited to: follow-up characterization studies to drug screens, cross-disorder clinical approaches, funding for remaining experiments before solidifying a pharmaceutical relationship, and adjustment of assessments or the development of new assessments which more accurately measure Phelan-McDermid syndrome phenotypes. Applications with clinical relevance will be preferred.

As the pre-eminent global organization for families affected by the rare genetic condition Phelan-McDermid syndrome, the Foundation has positioned itself to play a leading role in patient advocacy and family support and driving research breakthroughs.

This event stands as the world’s preeminent gathering for Phelan-McDermid families, offering a unique  opportunity for direct networking and engaging with pioneering researchers, social interactions, and attending informative sessions with esteemed guest speakers to discuss the pressing concerns and challenges within our community.

Join us at the Radisson Blu, Mall of America in Bloomington, MN, USA, from July 17-20, 2024. This contemporary hotel offers a seamless connection to a plethora of activities within the Mall of America, ensuring comfort and convenience, including indoor walking spaces, air conditioning, and complimentary airport shuttle services.

At the RADISSON BLU AT THE MALL OF AMERICA, BLOOMINGTON, MINNESOTA, USA, JULY 17-20, 2024: …

A synopsis of the 2024 PMSF Family Conference in the words of Michael Schön, MD, Institute for Anatomy and Cell Biology, Ulm University. This summary was created first in German for the German Phelan-McDermid community, then translated to english. It summarizes the speaker presentations as well as the family and community sessions.

Join Us at the 2024 Phelan McDermid Syndrome Foundation Family Conference at the Radisson Blu at the Mall of America in Bloomington, MN, USA. You will find something for everyone in the Phelan-McDermid community! The conference will be attended by families, clinicians, researchers, therapists, and industry partners. The agenda is full of offerings in the three tracks titled CARE, CONNECT and CURE, ranging from research and science, clinical care and caregiver support topics that all help to improve the lives of those affected by Phelan-McDermid syndrome. There will be evening events, family outings, a sibling field trip, dance party, dinner, reception to help families and others connect. If you have questions, contact us at conference@pmsf.org

Join us VIRTUALLY at the 2024 Phelan McDermid Syndrome Foundation Family Conference. Livestream is the next best thing to being there! The agenda is full of offerings in the three tracks titled CARE, CONNECT and CURE, ranging from research and science, clinical care and caregiver support topics that all help to improve the lives of those affected by Phelan-McDermid syndrome. If you have questions, contact us at conference@pmsf.org.

The Phelan-McDermid Syndrome Foundation is bringing together families, scientists, clinicians, industry partners, and other invested parties this July for the first time since 2018. Our agenda is based on our tripartite mission in Phelan-McDermid syndrome: to CURE(drive research breakthroughs), CARE(improve medical care), and CONNECT(support families).

We are seeking highly novel grant applications which explore an understudied area of Phelan-McDermid syndrome …

The PMSF Board of Directors has established an annual research grant of $100,000 in honor …

We are seeking grant applications which bridge the gap between promising pilot laboratory data and …

An overview of genetic testing terms

This one-page information sheet provides a brief overview of Phelan-McDermid syndrome, including its genetics, symptoms, …

Information and FAQs about brain tissue donation

Presentation slides from the 2017 PMSF Stanford Mini-symopsium

PMSF initiated the Phelan-McPosium to bring families affected by PMS, clinicians, and researchers together to …

CANDID , Consortium for Autism, Neurodevelopmental Disorders & Digestive Diseases, was a collaboration between patient advocacy groups, scientists, clinicians, and …

Caring for emotional and physical health is critical for caregivers. These mental health support resource …

Despite the inclusion of catatonia as a specifier of autism spectrum disorder in DSM-5, we—a team of child and
adolescent neuropsychiatrists who specialise in paediatric catatonia and neurodevelopmental disorders—have
identified a number of issues with the diagnosis and clinical management of catatonia in our patients.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and restricted interests and behaviors which begin very early in life. In about a quarter of cases, the symptoms emerge about 18–24 months after a period of normal development, a phenomenon commonly described as early regression. However, marked functional decline can also occur in persons with autism after a relatively stable childhood.

This resource is authored by Katy Phelan, PhD., et al Ring chromosome 22 is a …

Use this chart to help you make an informed decision when considering participation in a clinical trial.

A white paper based on the 2016 McPosium presenation titled, “Cognitive Issues in PMS” presented by

Audrey Thurm, PhD presented on communication in individuals with PMS, in a talk entitled “Let’s Talk about More than Just Talking: Language, Communication, and Social Behavior in PMS”. This presentation provided an overview of important definitions as well as current literature on language, communication, and social communication in PMS.

Leer y comprender su informe genético es como leer un idioma extranjero. A menudo, el …

We are thrilled to offer a variety of activities and events for our community at this year’s conference. There is a ton to do at the Mall of America and we want you to take full advantage! Please note that we will close discount ticket sales when Early Bird registration ends onMay31. After this, you may buy tickets from the vendors directly at full price and you may plan to go on your own. We will be planning our chaperones ahead of time, so we will not be able to provide chaperones if you purchase your tickets after May 31 at full price.

Attending a conference requires a lot of planning and funds for families. Past attendees have told us that being at the conference is “life changing”. We hope you find resources to help you with your trip. These resources apply to the United States. If you know of other sources in the US or internationally that we can share, please contact us at conference@pmsf.org.

Getting ready to attend the conference. Use our handy checklist to plan your packing. 

Learn more about the session topics in the 2024 Phelan-McDermid Syndrome Foundation (PMSF) Family Conference agenda. These sessions range from research discoveries, research studies, medical care guidelines and a myriad of topics about living with Phelan-McDermid syndrome. 

Presentation slides from the 2017 PMSF Stanford Mini-symopsium

In 2001, Katy Phelan and Heather McDermid described the clinical and cytogenetic characteristics of 37 people with a 22q13.3 deletion(Phelan et al., 2001). The 22q13.3 deletion syndrome was since then referred to as Phelan-McDermid syndrome (PMS) (OMIM#606232).Later on, the deletion of a single gene, i.e. SHANK3 (OMIM#606230),was found to be responsible for the majority of the clinical features.Individuals with a pathogenic variant in SHANK3 appeared to have a similar phenotype, that is also referred to as Phelan-McDermid syndrome (Schon ¨ et al., 2023, this issue; Vitrac et al., 2023, this issue). Sincenot all individuals referred to in the original publication of Phelan and McDermid may have had a deletion 22q13.3 including SHANK3 there has been some debate on how the phenotype should be called whenSHANK3 is not involved. Consequently, a distinction in different types ofPhelan-McDermid syndrome has been proposed: PMS SHANK3-relatedand PMS SHANK3-unrelated (Phelan et al., 2022).

The primary purpose of the study is to evaluate the effect of lithium at 12 …

Developmental and Epileptic Encephalopathy (DEE) We know a new diagnosis of seizures and epilepsy can …

A white paper based on the 2016 McPosium presenation titled, “Cognitive Issues in PMS” presented by

Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS.

Gastrointestinal (GI) problems are common in Phelan-McDermid syndrome (PMS). Chewing and swallowing difficulties, dental problems, reflux disease, cyclic vomiting, constipation, incontinence, diarrhoea, and nutritional deficiencies have been most frequently reported.

Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical characteristics to a variable degree, such as hypotonia or psychiatric comorbidities.

Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological …

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the SHANK3 gene. Lymphedema can be a clinical feature in 10-25% of individuals with PMS due to a deletion 22q13.3, but is not observed in those with a SHANK3 variant. This paper forms a part of the European consensus guideline for PMS and focuses on what is known regarding lymphedema in PMS in order to present clinical recommendations.

Phelan-McDermid syndrome is a rare genetic condition caused by a deletion encompassing the 22q13.3 region ora pathogenic variant of the gene SHANK3. The clinical presentation is variable, but main characteristics includeglobal developmental delay/intellectual disability (ID), marked speech impairment or delay, along with otherfeatures like hypotonia and somatic or psychiatric comorbidities.

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS.

Early onset sleep problems and disorders are very common in individuals with Phelan-McDermid Syndrome (PMS) with rates of up to 90%. These sleep problems and disorders cannot be taken lightly. Not only do they have a major impact on the health, behaviour, functioning and learning opportunities of affected individuals, they can also have detrimental effects on the well-being and resilience of parents and caregivers, ultimately affecting the physical health, mental health and well-being of the whole social system.

At the Phelan-McDermid Family Conference, you will find something for everyone in the family. This …

A graphic explaining possible reqirements for follow-on genetic testing

A graphic explaining possible reqirements for follow-on genetic testing

A white paper based on the 2016 McPosium presenation titled, “Cognitive Issues in PMS” presented by

Presentation from the 2017 Stanford Mini-symopsium

A Patient Centered Outcomes Workshop Whitepaper by Lauren Schmitt, PhD & Geraldine Bliss, MS from the 2016 McPosium Sessions.

Terms that may be related to Phelan-McDermid syndrome

This guidance is mainly intended to support primary health care professionals but should also be of value to those working in specialist lymphoedema services. It has been produced by a consensus group (membership listed on page 11) with an annual literature review for new evidence.  Disclaimer: These recommendations do not discuss how lymphedema interacts with other pathologies and only a few select medications are reviewed. These guidelines were recommended for a population that did not necessarily have chromosome abnormalities. Discuss treatment management and drug interactions with your physician.

A Global Genes resource: Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. But understanding your options may be challenging. Partnering with a genetic counselor can help you make the best choice for you and your family. What is a Genetic Counselor? A genetic counselor is a healthcare professional with special training in counseling and medical genetics. They can help you understand the diagnostic process and can advocate for you to obtain emotional and financial support and get the best possible care.

Reading and understanding your genetic report is like reading a foreign language. Often the report …

How to improve your child’s IEP objectives through effective advocacy, presented at the 2017 PMSF Stanford Mini-symopsium

Jaguar has released an updated community letter and FAQ document that provides new details about …

Traveling is daunting for anyone, but especially when you are traveling as a family that includes someone diagnosed with Phelan-McDermid syndrome! From packing reminders, hotel information, phone numbers, and maps – this guide will help you with your planning.

Use these maps to help you navigate the Radisson Blu conference center and the Mall of America. There are also signs in and around the Radisson and the Mall.

About the PCORI funded, Patient Centered sessions at the 2016 Conference

It has come to the attention of the PMS Medical Advisory Committee that some individuals with PMS experience significant adverse reaction to anesthesia in the context of medical procedures (e.g., dental; imaging).

It has come to the attention of the PMS Medical Advisory Committee that some individuals with PMS have challenges sustaining funding for behavioral therapy and related services if children are deemed to not be making adequate gains. For this reason, we wanted to provide the following guidance that we hope will inform discussions of appropriate interventions.

PMS is a rare genetic disorder which usually involves changes in a critical gene (SHANK3) …

It has come to the attention of the PMS Medical Advisory Committee that many individuals …

The Phelan-McDermid Syndrome (PMS) Medical Advisory Committee would like to inform the patient community and the providers who care for them about two very rare disorders that may occur with PMS, and which are associated with significant developmental regression in early childhood. Developmental regression is known to occur in children and adolescents with PMS.

The Phelan-McDermid syndrome community has experienced profound grief and concern over the deaths of some …

The purpose of the study is to look at the safety, tolerability, and efficacy of …

Neuren has released a statement that the drug was found to be generally safe at the dose tested, having no serious adverse effects.

Individuals with Phelan-McDermid syndrome caused by a 22q terminal deletion and a ring chromosome are at increased risk for Neurofibromatosis type 2 (NF2). However, the prevalence of NF2 in individuals with PMS and a r (22) is unknown.

These PMS Pharmacological Recommendations were developed by the PMS_Neuropsychiatric Consultation Group (PMS_NCG). These algorithms describe treatment suggestions for PMS individuals who have PMS who also carry a diagnosis of ADHD, Sleep Disturbance, Irritability and Aggression, Mood Cycling, and/or Catatonia.

These PMS Pharmacological Recommendations were developed by the PMS_Neuropsychiatric Consultation Group (PMS_NCG). These algorithms describe treatment suggestions for PMS individuals who have PMS who also carry a diagnosis of ADHD, Sleep Disturbance, Irritability and Aggression, Mood Cycling, and/or Catatonia.

These PMS Pharmacological Recommendations were developed by the PMS_Neuropsychiatric Consultation Group (PMS_NCG). These algorithms describe treatment suggestions for PMS individuals who have PMS who also carry a diagnosis of ADHD, Sleep Disturbance, Irritability and Aggression, Mood Cycling, and/or Catatonia.

Este diagrama identifica as áreas de especialidades médicas que podem ser úteis na avaliação de uma pessoa diagnosticada com a Síndrome de Phelan-McDermid (PMS), as condições que podem estar presentes, os exames que podem ajudar no diagnóstico e a abordagem multidisciplinar.

2023 Fundraising Toolkit. Fundraising is the major lifeline of our organization. We rely on the generosity of donors, like you, to provide the funds necessary to achieve our goals of helping families, facilitating research, and creating awareness of Phelan-McDermid syndrome (PMS).

Update on the RDCRN DSC Natural History Study, presented at the 2016 McPosium

The Clinical Care Guidelines infographic is a tool that can be used by patients to begin discussions with their own clinician. Please note that all cases of PMS are different and your doctor/clinician is the best resource to help you make clinical care decisions for your loved one.

Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.

The Clinical Care Guidelines infographic is based on a publication titled “Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring” Kolevzon et al. Journal of Neurodevelopmental Disorders 2014, Sinai Seaver Autism Center. This infographic is a tool that can be used by patients to begin discussions with their own clinician. Please note that all cases of PMS are different and your doctor/clinician is the best resource to help you make clinical care decisions for your loved one.

The Clinical Care Guidelines infographic is a tool that can be used by patients to begin discussions with their own clinician. Please note that all cases of PMS are different and your doctor/clinician is the best resource to help you make clinical care decisions for your loved one.

This document specifies the acceptable font and color usage for the official Phelan-McDermid Syndrome Foundation brand.

Clinicians treating PMS individuals experiencing a neuropsychiatric event can use this form to reach out …

Neuren has released a statement that the drug was found to be generally safe at the dose tested, having no serious adverse effects.

The Inaugural Meeting of the Consortium for Autism, Genetic Neurodevelopmental Disorders, and Digestive Diseases (CANDID) …

2017 PMSF Stanford Mini-symopsium

Do you wonder how a research publication affects your loved one or the field of …

Linking PMS genetics with symptoms – a large study on 170 individuals 

A characterization of sleep issues in PMS compared with a related rare disorder

Progress in developing model systems from patient cells 

…

A graphic explaining possible reqirements for follow-on genetic testing

2016 McPosium Sessions

A graphic explaining possible reqirements for follow-on genetic testing

Testes Genéticos de Seguimento na Síndrome de Phelan-McDermid (PMS)

2017 PMSF Stanford Mini-symopsium

Clinical trials are conducted to collect data to evaluate the safety and benefit (efficacy) of …

The objective of these updated clinical management guidelines was to: (1) reflect the latest in …

This EL-PFDD meeting was modeled after the work of the FDA’s Patient Focused Drug Development (PFDD) initiative. PFDD is a systematic way of gathering patient perspectives on their condition and on available treatments. The information gathered at the meeting is presented in this Voice of the Patient report, a high-level summary of the perspectives generously shared by the families and caregivers of individuals living with PMS, who participated in the November 8, 2022, EL-PFDD meeting. The report also includes selected comments that were submitted through an online portal.