PMS Neuropsychiatric Consultation Group - ECHO

What is the ECHO PMS-NCG?

The Phelan-McDermid Syndrome Foundation (PMSF) and the Seaver Autism Center at Mount Sinai have collaborated to provide a service that helps doctors care for people with Phelan-McDermid syndrome (PMS) who have challenging neuropsychiatric or behavioral problems.

The Extension for Community Healthcare Outcomes (ECHO at https://echo.unm.edu) is a remarkable model for bringing expertise from medical centers to health care providers around the world, using a hub-and-spoke knowledge-sharing approach where expert teams lead virtual clinics. The Phelan-McDermid syndrome-Neuropsychiatric Consultation Group (PMS-NCG) is a team of specialists in neurology and psychiatry who have expertise in the management of neuropsychiatric problems in Phelan-McDermid syndrome (PMS) patients. The team works with the ECHO model to provide monthly consultations to the healthcare providers of complex PMS patients.

You may access the PMSF Quick Resource (QR) Card links by clicking here.

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Information for PMS parents

Neuropsychiatric illness and regression in teenaged years and adulthood. People with Phelan McDermid syndrome may develop new emotional/psychiatric problems during their teens and afterward. Some also have a loss of skills, which can come and go with episodes of psychiatric illness, or can become a long-lasting loss of skills, which we call “regression”.  We do not yet know how common these things are, and we do not yet know enough to predict whether this will happen to any particular person with PMS. 

This piece is written to help parents recognize changes that may need evaluation or may respond to known treatments. One of the most important points to remember as you read this is that the changes and behaviors described here are either new ones for the person or much more intense than they were for the person in the past.

In people with Intellectual Disability and in people who don’t use language to tell us how they feel, it can be hard to be sure what’s going on. Even so, we can notice patterns of changes that can lead to clear diagnoses and to helpful treatments. In the following section, we describe behaviors that can point to treatable mental health conditions.

Depression is a spell of days to weeks or months during which a person

  • Loses interest in things they used to enjoy
  • May seem withdrawn and not respond as they usually do to affection or playfulness
  • Sleeps more
  • Moves slowly
  • May look sad
  • May look fearful
  • May be irritable or grumpy
  • Has changes in their interest in food, eating more or less than usual

Mania is a spell of days to weeks or months during which a person

  • Sleeps less than usual and doesn’t seem tired even though they did not sleep much
  • Has high energy and moves around more than usual
  • May talk or vocalize more, faster, or more loudly than usual
  • May be excited, extra happy, or irritable, and react faster than usual
  • Pursues things they like intensely
  • Does impulsive or dangerous things they don’t usually do (this can include sexual behaviors, stripping off clothes, bolting away, climbing unsafely)
  • May have intense repeating of behaviors such as taking things off shelves and strewing them around

Anxiety Disorders are diagnosed when a person has fears and behaviors that interfere with their usual function. This can be hard to clarify for our families, because:

  1. repetitive behaviors and obsessions with favorite objects and experiences such as videos are common in people with PMS as part of the syndrome, and
  2. people who can’t use language well can’t always let us know when they’re frightened. Some people with PMS also develop new, intense difficulties in teen or adult years that may earn them new diagnoses.

Symptoms include:

  • Refusal to go places or see people that they used to enjoy
  • New fears
  • Irritability and trouble settling to sleep
  • Agitated behavior with attempts to “escape” or frantic grabbing at caregivers that may be due to panic
  • New intense need to get hold of things they like (dolls, cars etc)
  • New need to do things in exact sequence or to do things over and over
  • Repeated questions and looking for reassurance about worries that don’t seem to be soothed by answers
  • Restlessness, diarrhea, trembling or pallor that are related to adrenaline

Catatonia is an unusual disturbance of motor functions, often accompanied by some signs of fear, that can happen during a spell of psychiatric illness, or can happen in response to medical stress or to certain medications that might be used to treat other problems. People with PMS may be more likely to develop catatonia when treated with anti-psychotic drugs than others are. 

Catatonia can take a form of immobility (“stuporous catatonia”) or of greatly agitated, restless behavior with repeated movements and oppositional, negative reactions (this kind is known by several names, including “excited catatonia”, “delirious mania” or “hyperactive catatonia”). 

Catatonia can be dangerous, and can increase to a level which requires ICU care. Some of the symptoms listed here are things that may be part of how a person with PMS always has been; these do not count towards a catatonia diagnosis. These symptoms only suggest catatonia if they’re new or very different from how the person was before. Some symptoms of catatonia that have been described in people with PMS include:

  • Stiff and rigid muscles
  • New ways of walking or of holding the body, such as leaning over or to the side, holding arms bent, or walking in circles
  • Holding awkward, uncomfortable-looking positions for a long time as if “stuck”
  • Staring and not responding for long periods
  • Having trouble crossing boundaries, going up stairs, getting into and out of cars
  • Frequent trips to the bathroom with nothing coming out
  • Repeating and echoing behaviors (new ones) such as repeating words, phrases or body motions
  • Resistant, oppositional behavior that is not part of how the person usually is
  • Difficulty using their mouth and tongue as they usually do, with slurred speech, drooling, or not moving food around in the mouth to chew and swallow it
  • Turning away and refusing food
  • Grimacing (odd facial expressions)

Psychosis is a state of confused or disoriented thinking and behavior. Symptoms include:

  • Seeing or hearing things that others don’t (in non-verbal people we have to guess by watching their behavior – are they responding to or watching things we can’t see?)
  • Sudden outbursts of dangerous, apparently meaningless behavior that’s very out of character for the person
  • Expressing beliefs that are new and don’t make sense, such as thinking that there are monsters outside 

Regression is a word that is used in different ways, and a big concern for PMS parents. Some children lose skills in their early years – usually before age 6 years – and this is a known part of the syndrome and of autism generally. There are also some people with PMS who lose skills later in childhood or in teen and adult years. It is important to watch to see if the loss of skill comes and goes with episodes of illness, or whether it lasts for months when the person is not ill.

What should you do if you are concerned about this sort of change?

  • Keep notes – they will be useful
  • Capture video of the behaviors that you are concerned about
  • Talk to your child’s doctors
  • If you do not have a psychiatrist on your team, print out this informational sheet and ask your child’s primary care doctor to refer your child for prompt evaluation.

Before considering adding medication, please review the Medical Advisory Committee’s alert about potential reactions to some specific medications. You may also want to view, print, and/or share the pharmacologic treatment guidelines in the next section with your medical provider(s).

Pharmacologic Treatment Guidelines

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

Parents and caregivers may share these recommendations with their healthcare providers.  Medical professionals may refer to these algorithms when designing a care plan for their PMS patients. * Please note these recommendations are not established as “evidence-based”.

Please note: the English version (rev 2) was updated on 6/17/2022, Espanòl and Français (rev 1).

Who is in the ECHO PMS-NCG?

The Phelan-McDermid Syndrome Foundation (PMSF) is deeply grateful to the experts who are making their time and expertise available to help other medical teams as they help our loved ones with Phelan-McDermid syndrome! A list of the distinguished members of the PMS-NCG is provided below and you can click on the collage to read more about them.

Inge van Balkom, MD, PhD (Child Psychiatry; Jonx & University Medical Centre Groningen, Netherlands)

Elizabeth Berry-Kravis, MD, PhD, Child Neurology: Rush University Medical Center

Lance Clawson, MD, Child Psychiatry; Georgetown and George Washington University

Neera Ghaziuddin, MD, MRCPsych, Child & Adolescent Psychiatrist; University of Michigan, Ann Arbor

Mark Gorman, MD Child Neurology; BCH

Andrea Gropman, MD, Child Neurology and Clinical Genetics; George Washington University and National Institutes of Health

Aaron Hauptman, MD, Pediatric & Adult Neuropsychiatry; Kennedy Krieger Institute; Johns Hopkins University School of Medicine

Jimmy Holder, MD, PhD, Child Neurology; Texas Children’s Hospital

Joan Jasien, MD, Child Neurology; Duke

Teresa M. Kohlenberg, MD, Developmental-Behavioral Pediatrics; Child Psychiatry

Alex Kolevzon, MD, Child Psychiatry; Mount Sinai (chairperson)

GenaLynne C. Mooneyham, MD, MS (General Pediatrics/Adult

Ann Neumeyer, MD, Child Neurology; Massachusetts General Hospital Lurie Center

Antonio Persico, MD, Child & Adolescent Neuropsychiatry; Modena University Hospital, Italy

Haniya Raza, DO (Child Psychiatry; NIMH)

Sid Srivastava, Child Neurology; Boston Children’s Hospital

Audrey Thurm, PhD, Clinical Psychology; National Institute of Mental Health

Pilar Trelles, MD, Child Psychiatry; Mount Sinai

Willem Verhoeven, M.D., PhD, Psychiatry

Lee Wachtel, MD, Child Psychiatry; Kennedy Krieger Institute

How to apply for a consultation

The consultations are direct from the PMS-NCG team to the health care providers. Families interested in having their child’s medical professionals consult the PMS-NCG can begin by asking the professionals if they are interested in a consultation. If they are, families can help get the process started by filling out the information that they may know on the form below, then giving the form to the professional to finish and submit. Only medical professionals may submit a request for consultation.

This service is provided FREE to physicians. Some physicians have been able to use billing code 99367 for their participation in the service.

If you have questions about or difficulty with the online Intake Form, contact Dr. Alex Kolevzon, at alexander.kolevzon@mssm.edu