My child has a Phelan - McDermid Syndrome (PMS). What to do & what to know during the lockdown
Dr. A Maruani (Child Psychiatrist); Dr. AC Tabet (Cytogeneticist); Dr. D Germanaud (Neuropediatrician); Prof. R Delorme (Child Psychiatrist); Reference centre for rare intellectual deficits; InovAND Centre of Excellence for Neurodevelopmental Disorders, R Debré Hospital, Paris
Your child has a Phelan-McDermid syndrome: you are worried and don't know if there are specific things to do and to know during this period of confinement. We have made this document so that you can identify yourself on a case-by-case basis according to your child's specific symptoms. It is a chart that provides advice for each symptom of your child.
1/ Global delay in development and acquisition (motor skills, communication, language, etc.) (95% of PMS patients)
During this period, when all landmarks are disrupted, it is very difficult to continue as usual in the daily management of your child affected with a significant developmental delay. We have made specific toolkits to help you and to continue to stimulate him during the confinement, especially on the motor level, but also on the socio-communication level.( click here).
2/ Epileptic seizures (27% of PMS patients):
There are three special circumstances in the current situation that can unbalance your child's epilepsy: forgetting or changing the antiepileptic treatment, disturbance and lack of sleep, and a viral infection (coronavirus or not). Respect the doses and their schedules, try to avoid sleep deprivation and be attentive to the fever that you can treat with paracetamol while waiting for a doctor's advice. Take advice from your general practitioner or your referring doctor. Make sure you have in mind or be reminded what to do in case of an epileptic seizure lasting more than 5 minutes (midazolam, diazepam...).
3/ Sleep disturbances (especially sleep-wake rhythm disturbance) (46% of PMS patients):
Your child may be more stressed during this period or be affected by the disruption in the rhythm of life.
4/ Becomes red and hot frequently (68% of PMS patients):
Be careful not to confuse these symptoms with a high fever. Take the temperature with a clinical thermometer (fever if > 38°C or 100.4 F) Monitor regularly for unusual or increased symptoms and give your child water to drink regularly.
5/ Decreased sweating (60% of PMS patients):
Be vigilant about your child's mealtimes and regular hydration, especially if he or she has eating difficulties, if the apartment is very hot, or of course if he/she has fever..
6/ Hypersensitivity to touch (46% of PMS patients):
The period of confinement could increase this hypersensitivity. Make sure to establish regular rest periods for your child.
7/ High pain threshold (77% of PMS patients):
You have probably noticed that your child - apart from his communication difficulties - is not very sensitive to pain. This could mask discomfort and hence a health problem. So don't hesitate to be more attentive, especially to the association of unusual signs (e.g. eats less, stimulates himself more, has more self-aggressive gestures, saliva more...) that could indicate discomfort and take the temperature regularly.
8/ Arachnoid cyst (19% of PMS patients):
Don't worry - youdon't have to do anything special.
9/ Gastroesophageal reflux (42% of PMS patients):
This is a very common symptom but is not a particular risk factor during this period of confinement. Be careful, however, there is a risk of having more reflux because he goes out less, does less sport, is more constipated, is less well positioned. Avoid overly large meals, especially as confinement can lead to excessive food intake.During this period when landmarks are disturbed, it is difficult to accompany your child as usual. We have made a number of sheets to help you and try to stimulate your child, particularly in terms of motor skills, but also in terms of social communication. (click here)
10/ Autistic disorders - serious disorders of social communication (50% of PMS patients)
During this period when landmarks are disturbed, it is difficult to accompany your child as usual. We have made a number of sheets to help you and try to stimulate your child, particularly in terms of motor skills, but also in terms of social communication. (click here)
11/ Chewing non-food products, impulsively (85% of PMS patients)
This is often a major problem for families at the moment because children have great difficulty respecting handwashing and very often put their hands in their mouth. Have hydro-alcoholic gel with you during walks. You can also try to make him/her wear gloves in the most risky moments, i.e. when you are in a place where public furniture is nearby. Otherwise, wash his hands when he returns from walks.
12/ Self-mutilation: Biting oneself - Pulling one's hair out (47% of PMS patients)
During this time of disruption, it is difficult to manage your child's daily routine as usual. We have made numerous sheets to help you and limit the increase in inappropriate or dangerous behaviour.
13/ Continuous excessive screams (46% of PMS patients)
During this time of disrupted landmarks, it is difficult to manage your child's daily routine as usual. We have made a number of sheets for you, to try to stimulate your child, especially to improve particularly in terms of motor skills , but also in terms of social communication. (click here)
14/ Aggressive behaviour (41% of PMS patients)
During this period, all landmarks are disrupted. So it is very difficult to continue with your child's daily routine as usual. We have made a number of cards for you, to try to stimulate him, especially on the motor and level, but also on the socio-communication levels (click here).
15 - Uninterrupted crying (31% of PMS patients)
During this period, all landmarks are disrupted. So it is very difficult to continue with your child's daily routine as usual. We have made many cards for you to try to stimulate your child, especially on the motor and level, but also on the socio-communication levels (click here).
16 - Genital abnormalities (5% of PMS patients)
During this period, if a follow-up appointment is scheduled, talk to the specialist who is following your child, a possible teleconsultation may be offered to you.
17 - Early Puberty (12% of PMS patients)
Pubertal signs may appear in your child at this time. There is no urgency to take care of them, an appointment in endocrinology will be scheduled at a later date....
18 - Frequent urinary tract infections (8% of PMS patients)
Be very vigilant about personal hygiene during this period, especially for girls. Be careful if they are dependent on someone else to wipe them when they go to the toilet. Also be careful that they drink regularly (see above) to limit the risk of urinary tract infection.
19 - Vesico-ureteral reflux or renal pyelo-calicular dilatation (14% of PMS patients)
Continue good hydration (as usual during this period of confinement). This reduces the risk of urinary tract infection.
20 - Congenital renal malformations (Duplicate kidney, kidney size increase, polycystic kidney, ..) (10-20% of PMS patients)
In general, if kidney function is normal, there is no need for specific concern. Sometimes kidney function is abnormal. Don't panic - usually your child's doctor has informed you. Just follow his or her recommendations. If your child has a fever, call your referring doctor promptly, otherwise on the 15th.
21 - Constipation (41% of PMS patients)
This is a very common symptom but this is not a specific risk factor during this period of confinement. Be careful, however, as your child he/she may be much more constipated because he/she goes out less, does less sport and perhaps eats fewer vegetables and fibres. You can offer him adapted physical activities and a diet rich in fibre.
22 - Skin rashes (39% of PMS patients)
Beware of viral infections that can cause skin symptoms such as red rashes or small blisters. Please make sure that your child does not have a fever associated with a rash that is new to you. If in doubt, call your referring doctor.
23 - Cellulitis (7% of PMS patients)
They can occur in patients with PMS and are associated with redness, pain (which the patient may not show) and swelling, most commonly in the lower limbs. They are more common in adolescents or adults. Don't hesitate to examine your child during the shower, for example, or while putting him or her in pajamas. In case of lesions, take the temperature and contact your doctor.
24 - Diabetes (2% of PMS patients)
Few children have diabetes. It is more likely to be adults. If they do, be very careful about managing blood glucose control and diet during the confinement period.
25 - Hypothyroidism (6% of PMS patient)
No specific indication. Continue the substitution treatment well.
26 - Hyperthyroidism (1% of PMS patient)
No specific indication. Continue brake treatment well
27 - Enzyme deficiency (4% of PMS patients)
Don't panic - usually your child's doctor has informed you. Just follow his or her recommendations. If your child has a fever, call your referring doctor as soon as possible, otherwise call on the 15th to ask for advice.
28 - Immunological Deficiency (12% of PMS patients)
Don't panic - usually your child's doctor has informed you of the risks associated with immunodeficiency. During this time of confinement, it is important to monitor your child's temperature carefully so that you can manage any infection that may not necessarily fit into the COVID19 framework early on. In any case, contact your referring doctor in case of fever.
29/ Congenital heart defects (13% of PMS patients)
The consequences of congenital heart disease are not well known in the specific context of PMS. Patients have rarely cardiac dysfunctions. Don't panic - usually the doctor following your child has informed you. IBut if this is the case, be very careful during the confinement period.
Caution: young adults and adults are specifically sensitive to changes in their environment or to biological stressors (such as fever). They may stop eating or appear socially distant and without motivation (such as depressed). Conversely, they may appear excited, with too much energy or with significant change of their sleep/wake rhythms (with a feeling that these changes are unusual. Please contact your practitioner rapidly. The best is to reach the MD in charge of your child, who has an expertise in treating people with a Phelan-McDermid syndrome.
# estimated prevalence is based on data reported in Phelan K, McDermid HE. The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2012 Apr;2(3-5):186-201; Sarasua SM, et al. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Hum Genet. 2014 Jul;133(7):847-59. Kolevzon A, et al. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord. 2014;6(1):39; Tabet AC, et al . A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ Genom Med. 2017 Oct 23;2:32