Phelan-McDermid Syndrome Conceptual Model

In early 2022, CureSHANK completed its first project: the Phelan-McDermid Syndrome Conceptual Model.

A disease conceptual model is a formal framework that assesses the lived experience of individuals and their families. Completion of one makes a disease community more attractive to industry, because they are useful for developing strategies to measure meaningful treatment outcomes.

The Phelan-McDermid Syndrome Conceptual Model surveyed fifteen peer-reviewed publications, categorizing nearly 100 signs and symptoms of PMS, as well as observer-reportable patient and caregiver impacts. CureSHANK invested $20,000 to produce the Conceptual Model.

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Additional signs include:

  • Communication disturbance

  • Delayed response to verbal cues

  • Disruptive/antisocial

  • Echolalia

  • Flat/inappropriate affect

  • Inattentiveness

  • Laughs or appears angry for no apparent reasons

  • Poor eye contact

  • Random and inappropriate speech

  • Resistance to change

  • Responds to imaginary sounds or sights

 “I don't know how to distinguish our son's health and autism conditions, behaviors etc. from PMS. We deal with seizures, GI issues, sleep issues, bouts of non-stop yelling, pacing, elopement, mouthing non-food items, toileting and on. We had serious regression at age 6. Every aspect of [our] lives are affected. We don't know what next steps to take.”
- Michell, parent of a son living with PMS

“Due to his communication challenges, it took years to diagnose his abdominal migraines and catatonia. He has repeatedly gone through battery of tests as we pursue various theories of what ails him, only to learn it was something else.”
- Mike, father of a 21-year-old son living with PMS (Class II deletion, 7.74 mega bp)

“His main disability has been language development which has affected his ability to interact socially and get a job which he really wants.”
- Cristina, mother of a 44-year-old son living with PMS

“She is either dead asleep or she is constantly this ball of motion. She never settles, she can't sit still. So, it makes communication hard, trying to teach her things hard. And I think that's our biggest struggle right now.”
- Hope, mother of a six-year-old daughter living with PMS

“Her social, emotional and psychological development has been greatly impacted by not being able to do what her peers can do. She is unable to live life at eye level and interact with others in an age appropriate way. As a parent, it is heartbreaking to watch your child live this way.”
- Lacy, mother of a nine-year-old daughter living with PMS (Class II deletion)

“During the daytime and night, she displays repetitive sensory seeking behaviours and needs to be redirected from things such as the tap, water, the fridge, doors etc. Part of the difficulty with sensory seeking behaviours is they are repetitive, and she has a low perception of pain. These repetitive sensory seeking behaviours can cause injury which she does not recognise. This also goes hand in hand with mania. She has a lot of energy and activity, which is never ending. As she doesn’t have a stop button, she requires 1:1 supervision (sometimes 2:1) 24/7.”
- Rachel, mother of a daughter living with PMS

“Josh is non-verbal. He communicates through the TouchChat app on his AAC device and he’s making progress there. He’s still mostly using it to request favorable songs, TV shows or food. We’re trying to model on his device with the hope of getting him to use it more openly for communication, rather than just requesting things.”
- Albert and Valentina, parents of an eight-year-old son living with PMS

“He’s since found ways to express some wants to me by guiding my hand or gazing at something that he wants or reaching in the direction.”
- Stefanie, mother of a three-and-a-half-year-old son living with PMS

“She recently gnawed on the corner of the coffee table and somehow (possibly because she was stimming, or possibly because she bit too hard and jerked back in response) managed to pull her bottom two teeth almost entirely out. We had to rush her to the dentist who pulled them the rest of the way out as there was no way to save them. …Isla cannot follow instructions and would not cooperate to let the dentist take any successful x rays.”
- Sarah, mother of a daughter living with PMS

Additional signs include:

  • Reduced response to pain

  • Self-stimulation

  • Stereotypic movement

  • Touch aversion

“Roman is extremely sensory. He mouths everything and anything. …He explores the world with his mouth and through touch, which can be dangerous at times if he mouths things inedible.”
- Jessica, mother of a seven-year-old son living with PMS

“Our son, Carter, ruminates 100's of times a day. We have been to several GI motility specialists with no help. This highly disrupts his daily quality of life. There are currently no treatments for rumination on the market.”
- Erica, mother of a son living with PMS

“And walking upstairs and downstairs has always been a challenge for him. So for our kid, he naturally, he never hold the rails when going up or down. He usually just extend the arms up and wanting to hold your hand, and we were always confused why he was doing that until he was diagnosed.”
- Eric, father of a 27-month-old newly diagnosed son living with PMS

“Because she's 38 years old, there's been a long arc here. She currently does not receive any non-medical therapies, but when she was younger, she got speech therapy, occupational therapy, physical therapy, and all of those helped dramatically. But then, Phelan-McDermid took over and she regressed and she lost basically all of that development.”
- Michael, father of a 38-year-old daughter living with PMS, diagnosed only one year previously 

“At the age of five, around kindergarten was probably our best year. He had about 10 words. He was semi potty trained. He actually wore underwear and it was a good time for us. We thought we were getting somewhere. And then the very little that he did gain he regressed.”
- Martha, mother of a nine-year-old son living with PMS

“Hudson has many other diagnoses in addition to Phelan-McDermid Syndrome, including intellectual disability with her IQ being 0.1%, feeding difficulty, hypotonia, ADHD, processing and motor planning delays and autism. Every year it seems like the gaps and deficits get bigger and wider and Hudson falls farther from where she should be developmentally.”
- Amanda, mother of a seven-year-old daughter living with PMS (Class I deletion)

Additional signs include:

  • Apathy

  • Appear to be in a stupor

  • Apraxia

  • Disinhibited behavior

  • Ignorance of consequences

  • Impulsivity

“My son's pica is considered life threatening. He will put everything in his mouth and as a result has had multiple surgeries to remove foreign objects. Currently, we are looking for a residential placement for our son and the primary reason for group homes to reject his placement is his PICA. His PICA is extremely dangerous and requires near constant supervision to keep him safe.”
- Shelley T., mother of a 20-year-old son living with PMS

“Last year, massive anxiety blew up into intense self -injurious behaviors, specifically in the form of punching himself in the face, giving himself black eyes and hitting his head against walls, doors and floors. … At its worst, he tried to hurt himself hundreds of times per day, often triggered by being anywhere except in his own bed, watching his favorite movie and eating his favorite snacks.”
- Arturo, father of a seven-year-old son living with PMS (SHANK3 variant)

Additional signs include:

  • Ataxia

“Catatonia is a recent diagnosis. …Matthew suddenly stopped walking unassisted, frozen unless he was holding onto you. He had never seemed fearful before and suddenly he would not walk a few steps in the house without holding on. … Over the next two years, he had several month-long periods where he was lethargic, losing over 10 pounds each time and generally failing to thrive. …This particular affliction has been devastating as Matthew is no longer himself when the catatonia strikes.”
- Mike, father of a 21-year-old son living with PMS (Class II deletion, 7.74 mega bp)

“My child went from mild developmental delay with very good speech and able to write, read, do independent self care etc to after puberty and a viral illness waking up one day as a totally different teenager unable to speak etc. Took two years for accurate catatonia diagnosis and till late twenties for the PMS diagnosis.”
- Melanie, mother of an adult child living with PMS

Additional signs include:

  • Anorexia

  • Attention deficit hyperactivity disorder

  • Bipolar disorder

  • Congenital heart defects

  • Depressive episodes

  • Epilepsy

  • Manic episodes

  • Neurologic deterioration

  • Obsessive-compulsive disorder

  • Psychiatric disorders

  • Psychosis

  • Psychotic symptoms

  • Schizoaffective disorder

  • Schizophrenia

  • Thyroid dysfunction

  • Unipolar major depressive

“As my son has gotten older, we have seen a decline in walking due to drop foot, frequent bouts of myoclonus dystonia, tremor, and many Parkinson's-like symptoms. As he is very active, the difficulty with walking and movement impacts his ability to do the things he enjoys, like hiking and swimming.”
- Laura, mother of a 22-year-old son living with PMS

“If I could define my son, I tend to say that he's something I like to call “dangerously mobile”. It's that he can move his body, but he doesn't truly understand the implications of the movements of his body. So there's no one in this world that loves my son as much as me. And there's no one in this world that gets hurt by my son as much as me. He kicks me, he punches me, he bites me. Just going to be blunt. Never out of anger, purely because he doesn't understand what he's doing.”
- Joanna, mother of a six-and-a-half-year-old son living with PMS

Mike described his son as, “‘Non-wordal’ because he is quite communicative but he does not use words. He tends to perseverate around a few buttons on his communication device, so understanding his wants and needs, especially when not feeling well, is a challenge. …Due to his communication challenges, it took years to diagnose his abdominal migraines and catatonia. He has repeatedly gone through battery of tests as we pursue various theories of what ails him, only to learn it was something else.”
- Mike, father of a 21-year-old son living with PMS (Class II deletion, 7.74 mega bp)

“We are constantly having to guess what he wants, what hurts, what makes him happy, where does he want to go, does a medicine give him side effects, is someone not nice to him at school or on the bus, how did he get that bruise and on and on and on.”
- Amy, mother of a 17-year-old son living with PMS

“Cycles of passive and apathic mood/behaviour, contrasted with cycles of agitated and hyperactive mood/behaviour. These ‘low’ and ‘high’ cycles can be observed over long periods (sometimes seasonal) and short periods (during one day). During the ‘high’ hyperactive cycles, very often sleep problems are also observed. These cycles started during childhood, but it is during adolescence that they become extreme and particularly challenging. Hormonal changes exacerbate the cycles. Serious sleep problems often start at this age during the ‘high’ hyperactive cycles. Suddenly PMD individuals can resist sleeping for several days in a row - that is extremely difficult for them and the parents.”
- Sandra, mother of a 24-year-old daughter living with PMS

Additional signs include:

  • Cognitive behavior

  • Expressive language

  • Psycho-motor development

“My daughter now has very scarred kidneys, 60% function on one side, 40 on the other. We have to be very careful about the type of drugs that's coming in and is it clearing through the liver or the kidney? ... She gets so tired just fighting all this during the day. And I think part of it is just fighting all these symptoms.”
- Elizabeth, mother of a 24-year-old daughter living with PMS  

“Drew, like many in the PMS community has had kidney issues since birth (bilateral hydronephrosis).”
- Jason, father of a 14-year-old son living with PMS

“Her social, emotional and psychological development has been greatly impacted by not being able to do what her peers can do. She is unable to live life at eye level and interact with others in an age appropriate way. As a parent, it is heartbreaking to watch your child live this way.”
- Lacy, mother of a nine-year-old daughter living with PMS (Class II deletion)

“Lymphedema is the other big concern for us both for now and the future. It has caused cellulitis twice now. The last time was in the spring in his ankle. He had to visit the pediatrician three times in one week to make sure the infection was truly going away and he didn’t need IV antibiotics instead of the oral ones. He missed a lot of school that week.”
- Erin, mother of an 11-year-old son living with PMS (5.2mb interstitial deletion not including SHANK3)

Additional signs include:

  • Constructive or imaginative play

  • Expressive language

  • Fine motor skills

  • Post psychiatric episodes

  • Purposeful hand movement

  • Self-help

  • Social engagement skills

“A challenge is determining what the root cause of the behavior is--is it mania, catatonia, OCD, anxiety, GI pain, sensory issues/overstimulation leading to an autism meltdown, mood dysregulation that is causing the behavior?”
- Kristine, mother of a 22-year-old son living with PMS

“Anxiety is one of the most difficult and tricky aspects of this disorder for Tallu and for those who love and support her. Her anxiety coupled with the lack of understanding and sophistication of thought needed to logically navigate life's challenges and changes make life so hard for Tallulah some days.”
- Teresa, mother of a 16-year-old daughter living with PMS

“She had a significant regression at age 13, experienced psychosis and lost many skills. … Since her regression, my daughter has not been able to articulate how she feels. It’s very hard to see her uncomfortable and in pain and have to guess what is hurting her and how to help her.” - Sheri, mother of a daughter living with PMS

“The biggest challenge we now face with our 23-year-old son with PMS is losing skills learned when he was younger. His speech has gone from maybe 100 words to less than 20.” - Kevin, father of a 23-year-old son with PMS

“Our daughter Maribeth began experiencing changes in behavior at the age of 26. There are days where she is extremely agitated/uncomfortable, to the point of aggression at times. Other days, she is sweet, loving and is able to participate in activities of daily living. It affects her ability to attend her Day Program on a daily basis, as well as social activities outside of the house."
- David and Maryjane, parents of a 31-year-old daughter living with PMS

Additional signs include:

  • Abdominal pain

  • Diarrhea

  • Vomiting

“Ivy-Rose suffers terribly with constipation. She will often go days without opening her bowels, and then have days where she is really struggling to go, and when she eventually does it often causes seizures as it is so hard for her. She is on daily laxatives which do not consistently help her.”
- Inez, mother of a four-year-old daughter living with PMS (8.7 mb deletion)

“Since he was a baby, Matthew has had severe colic and acid reflux. He has had several endoscopies and is treated by a gastro-intestinal doctor. He continues to take medication for the reflux.”
- Martha, mother of a nine-year-old son living with PMS (two SHANK3 variants)

Sarah’s daughter has a lot of “blow-outs” requiring full changes, bathing and cleaning. “This is a regular occurrence that causes great anxiety and difficulty trying to take her anywhere as there is no telling when and where she will relieve herself. She is so large she cannot fit on changing tables in any public restrooms, so we must do our best to find a safe, private floor space to lay her down and change her there.”
- Sarah, mother of a daughter living with PMS

“My son used to love food, he could feed himself, but like many of the other callers and parents have said, he would shove food in his mouth. … And then all of a sudden with the regression, he stopped eating, he started choking, he started throwing up daily. …We saw a GI specialist and eventually he got a feeding tube. … This was really hard to watch for a kid that just loved food.”
- Heidi, mother of an adult son living with PMS

Additional signs include:

  • Difficulty falling asleep

  • Insomnia

  • Parasomnias

  • Sleep apnea and sleep disordered breathing

“Sam has not slept through the night since birth. He is 20 years old. The impacts that lack of sleep has had on him and us caring for him are devastating.”
- Shelley T., mother of a 20-year-old son living with PMS

“Very challenging when your adult child does not sleep, mood swings which can manifest with aggression and property destruction, nonverbal, won't wear clothes in the house, manage appointments, medications, etc.”
- Denise K., parent of a 40-year-old son living with PMS

“My son falls asleep normally, but wakes typically between 2-3 am and often will not sleep more.”
- Laura, mother of a 22-year-old son living with PMS

 “We had to put a video camera on her at night … and during this, we realized she was tossing and turning 70 to 100 times at night. So literally she wasn't sleeping.”
- Cynthia, mother of a 19-year-old daughter living with PMS

“Last year Gavin started having seizures. …He started to lose the ability to feed himself, walk and several other new issues.  … Gavin continues to have 500-1000 seizures a day and we have exhausted all medical means to stop them. This requires someone to be in his room 24/7 to tend to his medical needs.”
- Carrie, mother a son with PMS

"My 24 year old son has on average 10 or more seizures per day. That is despite the fact that he currently takes a cocktail of five different anti-seizure medications, has a VNS device, has undergone a carpus callosotomy, and has tried the low glycemic and ketogenic diets for epilepsy. Unfortunately treatment failures have greatly outnumbered successes."
- Brad, father of a 24-year-old son living with PMS and LGS

“Sammi started walking when she was two, so her low muscle tone might not be severe, but her body coordination is not so great. She's still learning to use her hand to protect her face when she falls.”
- Shiori, mother of a seven-year-old daughter living with PMS (Class II deletion)

“Our son had to struggle a lot. He was not able to hold his head on his own until he was almost 2 years old because his upper body was extremely hypotonic.”
- Sabine, mother of a 16-year-old son living with PMS

Additional signs include:

  • Decreased perspiration

  • Heat intolerance

  • Recurrent infections

  • Restlessness

  • Tetraparesis

  • Urinary retention

“He has also become incontinent, which makes outings very difficult as he is 6' 2" and 180 lbs.”
- Kevin, father of a 23-year-old son with PMS

“Urinary retention and bladder spasms is a big problem now, too. Holding in, not controlling his bladder, urinating through his diaper at school and having to change clothes.”
- Ryan, father of a 13-year-old son living with PMS (terminal deletion, including entire SHANK3 gene)

Additional impacts include:

  • Need parent in room/bed to fall asleep

  • Need medication to sleep

  • Takes very long time to fall back asleep

  • Tiredness during the day

  • Wakes very early

“The most stressful situations are when nights are a fight to sleep and awakes 3/6 times, asking for the parents or sister.”
- Rui, parent of a 10-year-old daughter living with PMS

“We've been through the gamut of all sleep medication. I think we've tried six different ones. And none of them have fully helped. There have been a couple that have helped lessen the wake ups to three instead of five or six. But nothing that gives her or our household a solid eight hour hours of sleep. So it makes treating anything else seem impossible when you're functioning on no sleep.”
- Ellie, mother of a seven-year-old daughter living with PMS

“Because of the intellectual disability, when our daughter wakes up at night, she doesn’t read a book or watch the tv by herself until she falls back asleep, so someone must be with her at all times and her behavior sometimes even wakes up the whole family. We must make sure she doesn't wander in the house, doesn't try to leave the house, doesn't turn on the taps/faucets... This has a high impact on everyone’s health and daily life.”
- Stephanie, mother of a daughter living with PMS

“Laney's sleep disturbances has been one of the hardest for our entire family. Myself, my husband and her seven-year-old brother are woken throughout the night from loud screaming, confusion, and very early morning waking. Laney can wake anywhere from 1-10 or more times a night and waking up between 4 and 5 am is normal.”
- Katie, mother of a six-year-old-daughter living with PMS

Additional impacts include:

  • Social avoidance

“Screaming and self-aggressive behavior as well as a lack of concentration exclude the daughter from school education as well.”
- Monica, mother of an 8-year-old daughter living with PMS

“There are days we have had to follow him along with a water bottle marked by the ounces with a straw, and we have to prompt him to drink from the straw by putting it to his lips so that he gets some water intake and we can measure how much water is he getting, how much food is he getting, to make sure he's eating. We're monitoring everything. We have notebook full of what his day is like to monitor food intake, bowel movements, urination, behaviors we can track.”
- Chris, mother of a 22-year-old son living with PMS

“I would like to add that one of the most significant aspects of the PMD condition is the incapacity or general difficulty to concentrate, especially for longer periods of time.”
- Sandra, mother of a 24-year-old daughter living with PMS

Additional impacts include:

  • Working with a behavioral therapist

  • Managing pica

  • Use of probiotics and specialized diets

“He has a team of over 11 specialists and five therapists. He has required so much time in medical interventions, that only one parent in our household can work.”
- Avis, mother of an eight-year-old son living with PMS 

“PMS impacts our daily life as one of the parent (husband) can not work, impacting the whole family budget. … She has severe gastro-intestinal issues, all her life revolves around how much pain she has linked to gastro issues everyday day. As a result, she sleeps very little and is up most of the night one out of 2 or 3 nights. This lack of sleep has a significant impact on our family life, with my husband not working for 7 years now due to his sleep deprivation alongside our daughter. She is also totally non-verbal and unable to communicate which makes understanding where she hurts, very complicated.”
- Valerie, mother of a 10-year-old daughter living with PMS

Additional impacts include:

  • Concern about: EEG and MRI indications and timing

  • Concern about: Toilet-training

  • Concern about: Confusion over EEG results

  • Worry about: How epilepsy might affect family

“Bowel issues are quite severe and she is often in pain because she can't poop and we have to be very strict with her food intake and intolerances.”
- Ro, parent of a 13-year-old daughter living with PMS

“On our worst days we are dealing with chronic constipation or massive diarrhea, and bipolar behaviors that keep us from working or even leaving the house.”
- Janet, mother of a daughter with PMS

“Our 12-year-old PMS daughter for the last 6 months is going through slow regression, losing her skills, her speech is declining and she is no more able to use toilet independently (for over 8 years she was able to use toilet independently).”
- Agnes, mother of a 12-year-old daughter living with PMS

“He is not toilet trained, he doesn’t have self awareness at this level. He cannot dress himself, wash his body in the bath, brush his teeth, or any other self care things that most people take for granted.”
- Frances, mother of a five-year-old son living with PMS

“We have found what we think is a direct correlation with GI issues and behavior. Often times, she has difficulty establishing a regular bowel routine, suffers from gas and is bloated. This seems to exacerbate her state of agitation. When she completely empties her bowels, there is an immediate calmness that comes over her.”
- David and Maryjane, parents of a 31-year-old daughter living with PMS

“Even if we can make it to a community event, my husband and I are stressed the entire time trying to keep Lily content and safe – all while watching the awkward glances from others around us.“
- Anna, mother of a seven-year-old daughter living with PMS

“Because of her cognitive impairments and severe disabilities, it is extremely difficult to take her anywhere or go enjoy normal activities as a family. …If we want to go to a social event, one parent often has to stay with Isla outside of a concert or wedding or event that requires times of quiet. Her vigorous stimming and vocalizations are loud, disruptive and cannot be quieted. When we attend our church, it is extremely difficult to leave her in a classroom or in the care of others because of her size, her behaviors and her overwhelming physical needs.”
- Sarah, mother of a daughter living with PMS

Additional impacts include:

  • Need or desire for genetic testing

“Being able to do anything as a family has always been difficult due to many issues, including sensory overstimulation in public places, sometime leading to tantrums or shut down, not understanding you cannot run out onto the soccer field of your brother's game (and having a tantrum when stopped), being able to sit down at a holiday dinner with family and have a conversation without interruption or ‘someone’ wanting to leave immediately (still an issue at age 40), etc.”
- Denise K., parent of a 40-year-old son living with PMS

“It impacts her brother and sister to see her in pain, crying, without being able to alleviate her pain. Due to her gastro issues, it is very painful for her to be seating in a car. Despite all the possible seating arrangements, it still hurts her, which in turn impacts our family life as it limits going out of the house as a family.”
- Valerie, mother of a 10-year-old daughter living with PMS

“Daily life seems impossible when your PMS child has not had solid sleep in three years. After trialing five different medications, we feel like there is no way out. All the other issues that accompany PMS seem impossible to deal with, without solid sleep. This leaves our family often split in two since we have three other children. Outings often seem impossible.”
- Ellie, mother of a seven-year-old daughter living with PMS

“Our marriage broke up after 10 years, because we had no time to sleep or [time] for us, he needs always help, its a hard job.“
- Julia, mother of a five-year-old son living with PMS

“One of the greatest challenges we face is the understanding that regression, seizures, psychiatric illness, among other challenges are always potentially looming, but there is no way to predict whether or when those challenges may present. We live with very cautious optimism every day knowing that overnight our world could change more than it already has.”
- Stephanie, mother of a five-year-old son living with PMS

“The aggression that occurs especially between Brooke and Alex is more concerning because they are grown and are stronger and can cause more harm to each other when upset. We continue to add medication and environmental changes to be proactive in preventing any injuries that they may inflect on the other one. They are remorseful after they calm down and realize they hurt their sister. However, the impulsivity and aggression is so challenging.”
- Traci, mother of 21-year-old twin girls living with PMS

“We saw a psychiatrist, we tried various forms of antipsychotics. They all had really serious side effects. And many of them escalated this behavior and made the aggression worse. Until finally there was no option but to have him hospitalized.”
- Laura, mother of a 22-year-old son living with PMS

“As a parent I have caregiver PTSD as I’m constantly on edge that she might suffer a psychiatric crisis at any time.”
- Janet, mother of a daughter with PMS

“Something that I've heard PMS parents say time and again, and I agree with completely is the fear of the unknown of what the future holds. Our kids have such a gamut of outcomes and symptoms and we just don't know… and that's terrifying.“
– Carla D., mother of a seven-year-old son living with PMS

“I have given up all my interests and passions because they do not align with what Sam is able to do. I often share with others that living with PMS feels like a prison. We are kept away from the people and activities we love in order to care for our son and provide him the best possible life.”
- Shelley T., mother of a 20-year-old son living with PMS

“In her adult years, Jo actually needed two people to 'access the community' because Jo could bolt off, push people randomly, sit on ground in dangerous places. Joanna's home always needed to be deadlocked to avoid her escaping. Jo could run! On her worst day, Jo would be aggressive, scream for long periods, climb tables, move furniture dangerously.”
- Gail, mother of a daughter who passed away from PMS complications

“It is difficult to both understand the regressions and anticipate what growth or learning we might be able to anticipate.”
- Anna, mother of a daughter living with PMS

Additional impacts include:

  • Becoming drowsy while driving

  • Difficulty concentrating at work

  • Feel tired during the day

  • Irritability due to tiredness

  • Lack of sleep

  • Needing to sleep during the day

  • Sleep in settings other than their own bed

“What impacts our entire family most, physically, AND mentally, is his sleep disorder. Every night he awakes minimum five times and often can't fall asleep for up to three hours. He can't sleep alone and so he makes our nights into days. No therapy works. And like him, we as his night buddies, are always tired and sick. We have no help from family or professionals. We have cut down on our hobbies, our social and evening activities, to go to bed as early as possible. It's tremendously tough!”
- Dominique, mother of an eight-year-old son living with PMS

“It is difficult to maintain energy for carers when we are needing to get up for the day at 2 am or having limited sleep. She wakes up many times during the night and takes hours to be resettled.”
- Rachel, mother of a daughter living with PMS

PMS CONCEPTUAL MODEL, Methodology report, and Data extraction tables

PMS Conceptual Model

Methodology Report

Data Extraction Tables