What is 1p duplication syndrome?
The 1p duplication syndrome is an inherited congenital disorder in which children have a developmental delay combined with one or more congenital defects.

What is 1p duplication syndrome also called?
The word duplication indicates that a piece of the hereditary material is present twice instead of the usual once within a chromosome. The piece that is extra is a piece of the 1st chromosome, hence the number 1. Not all of chromosome 1 is duplicated, but only the p-section, which is why it is called a 1p duplication syndrome.

Trisomy 1p
There is also talk of trisomy 1p. The word trisomy indicates that a chromosome is present three times instead of the usual two times. It does not refer to the whole of chromosome 1 but to the part called 1p. Therefore the addition 1p.

CNV
Missing a piece of hereditary material from a chromosome or having a piece of hereditary material twice is also called copy number variant, abbreviated by the letter CNV. Many of these CNV syndromes are now known. The 1p duplication syndrome is one of these CNV syndromes.

How common is 1p duplication syndrome in children?
The 1p duplication syndrome is a rare disease. It is not known exactly how common 1p duplication syndrome is.



Who does 1p duplication syndrome occur in?
The 1p duplication syndrome is present even before birth. Often it takes some time before it is clear that there is this syndrome. Usually it becomes clear around the toddler / preschool age that children with this syndrome develop differently than other children without this syndrome.
Both boys and girls can get this syndrome.

What is the cause of the 1p duplication syndrome?
Error in hereditary material
The 1p duplication syndrome is caused by the duplication of a piece of the hereditary material (DNA) of chromosome 1. The piece of hereditary material that is duplicated is called 1p. The medical word for duplication is duplication.



Originating in the child itself
In a proportion of children, the change in the hereditary material in the child itself occurred after fertilization of the egg cell by the sperm cell and was not inherited from one of the parents. This is also called de novo or new origin.

Inherited from a parent
Another part of the children has inherited the change in the genetic material from one of the parents. This parent then also has the 1p double. Some of these parents have no symptoms at all, while others do have symptoms.



Multiple genes
On chromosome 1p are several pieces of hereditary material that are used to make proteins that are important for the body. These proteins play an important role in the construction of the brain, among other things. Without these proteins, the brain is constructed in a different way than usual.

What are the symptoms of 1p duplication syndrome?
Variation in severity
There is great variation in the amount and severity of symptoms that children with 1p duplication syndrome have. One child may have many more symptoms than another. This will also strongly depend on which part of chromosome 1p is present in duplicate. It is impossible to predict in advance which symptoms a child will have.

Pregnancy and birth
There are usually no special circumstances during pregnancy or childbirth.
Most children with this syndrome have a normal or slightly lower birth weight.

Low muscle tone
Children with the 1p duplication often have low muscle tone. Joints can be easily overstretched. Children must make more effort to keep their joints in a stable position. Many children with this syndrome have flat feet.

Problems with drinking
Some of the babies with this syndrome have problems drinking. They drink slowly and often let go of the breast or teat. It often takes a long time to give babies with this syndrome the breast or bottle. Sometimes it is necessary to temporarily tube-feed infants because otherwise they do not get enough nutrition. With age, drinking does improve for most children.

Developmental delay
Children with 1p duplication syndrome develop more slowly than children without this syndrome. Children start rolling over, sitting, standing and walking later in life. Most children eventually learn all of these. Walking and running often remain somewhat wooden. Often children have more difficulty learning to draw, write, cut and paste.

Delayed speech development
Learning to talk is much more difficult for children with this syndrome than for children without this syndrome. The first words often come much later than usual. It often takes a long time before children start using more words. Some of the children learn to talk in sentences. Children often find it difficult to tell what they have experienced or to tell what they feel. Understanding what other children and adults say often goes better than talking themselves.

Problems with learning
Children with this syndrome almost all have problems learning. The degree of these learning problems can range from mild to severe. A small proportion of children are not learning disabled.

Autistiform features
A proportion of children with this syndrome have autistiform features. Children often find it difficult to make eye contact with others. Many children need a clear structure in the day and find it difficult when there is an unexpected change in this structure. Children may become very sad or very angry as a result. Often children have a preference for certain toys or a certain activity. They have no interest in other toys or activities.

Physical characteristics
With many syndromes, children often have changed external features. This does not bother the children themselves, but it can help the doctors to recognize that there is a syndrome and possibly also which syndrome. Also, this often makes children with the same syndrome look more alike than their own siblings, even though the children are not related.
There are few specific external characteristics that occur in all children with the 1p duplication syndrome. Often, there are some distinctive external features, but they vary from child to child.

Vision problems
Squinting is more common in children with this syndrome.



Drooling
Children with this syndrome are more likely to experience drooling. This is due to the low muscle tone of the muscles around the mouth. As a result, the mouth is often slightly open, allowing saliva to easily run out through the mouth.

Congenital heart defect
A small proportion of children have a congenital heart defect.

Problems with sleeping
Sleep problems are common in children with this syndrome. Some children have difficulty falling asleep. A large proportion of children wake up frequently at night and then have difficulty getting back to sleep. Also, children are often awake early in the morning.

Susceptibility to infections
Children with this syndrome are more susceptible to getting infections. Ear infections in particular are more common in children with this syndrome.

How is 1p duplication syndrome diagnosed?
Story and research
Based on the story of a child with a developmental delay and some striking external features, a syndrome may be suspected. However, there are many different syndromes that can all cause these symptoms. Additional testing will be required to make the diagnosis of 1p duplication syndrome.

Genetic testing
Often all chromosomes are examined at the same time (so-called Array research), in this way the diagnosis of 1p duplication syndrome can be made.
Nowadays, a new genetic technique (called exome sequencing) will allow this diagnosis to be made without specific thought or search.

Metabolic testing
Children with developmental delay are often given metabolic tests of blood and urine to see if there is a metabolic disease that could explain the developmental delay. No abnormalities are seen in children with this syndrome.

MRI scan
In children with developmental delay an MRI scan of the brain will often be made to see what causes the developmental delay. On the MRI scan in children with this syndrome, no characteristic abnormalities are seen.

Pediatric cardiologist
Some of the children with this syndrome have a congenital heart defect, for which they are usually seen once by the pediatric cardiologist if there are indications that there might be such a congenital heart defect (murmur on the heart, blue discoloration during drinking or exercise). In addition to a physical examination, an ECHO of the heart will often be performed to determine whether a congenital heart defect is present.
How is 1pduplication syndrome treated?
No cure
There is no treatment that can cure 1p duplication syndrome. Treatment is aimed at stimulating children as much as possible in their development and learning to cope with the problems associated with this syndrome.

Rest and regularity
Children with this syndrome often benefit from a clear structure in the day. Cards that indicate what is going to happen that day can help children. It is also important not to plan too many activities in one day. Children can become over-stimulated as a result.

Covering the eye
In children who suffer from squint, it is often necessary to tape one eye to prevent it from becoming a so-called lazy eye, which prevents children from seeing properly.

Pediatric Physical Therapy
A physiotherapist can give parents tips and advice on how to stimulate their child to ensure optimal development.

Child speech therapy
A speech therapist can give tips and advice if there are problems with sucking, drinking, chewing or swallowing. Some children benefit from a special teat (special needs teat) which makes it easier to drink from the bottle. Mothers can pump breast milk so that children can still receive breast milk as nutrition through the bottle.
The speech therapist can also help stimulate speech development as best as possible. Talking can also be supported by means of gestures or pictograms. In this way children can learn to express themselves even if they cannot yet use words. Some children benefit from a speech computer.

Drooling
Drooling can be reduced by making children aware of the need to swallow their saliva. Exercises that involve practicing closing the mouth may also help.
There are medications that can reduce drooling. The most commonly used medication for this is glycopyrrhonium. Sometimes treatment of the salivary glands by means of botox or surgery may be necessary to make children drool less. Per child, the pros and cons of each treatment will need to be weighed.

Pediatric occupational therapy
An occupational therapist can provide tips and advice on how to make a child's care and daily activities as smooth as possible. The occupational therapist can also give advice on materials that can stimulate a child's development.

Rehabilitation Physician
A rehabilitation doctor coordinates the different therapies and also advises on aids such as an adapted baby carriage, orthotics or adapted shoes.

School
Most children with 1p duplication syndrome have problems learning. Some of the children attend regular education, often with some extra support. Another part of the children go to special education of cluster 2,3 or 4. The classes there are smaller and there is the possibility of combining therapy and school.

Treatment of sleep problems
A fixed sleep ritual and a fixed sleep pattern can help children to sleep better. The medicine melatonin can help to fall asleep better. There are also forms of delayed-release melatonin that can also help children fall back asleep when they wake during the night. Sleep aids should preferably not be given to children because they become accustomed to them and cannot live without them.

Educationalist
An orthopedagoog can give parents tips and advice on how to deal with social emotional problems or autism.

Child and youth psychiatrist
A child and adolescent psychiatrist can give advice on how the child and parents can best deal with autistic characteristics. Sometimes medication may be necessary (such as dipipiperone, risperidone or aripiprazole) to ensure that children become less sensitive to stimuli. For each child, the benefits of medication will need to be weighed against its drawbacks.

Antibiotics
A proportion of children who have frequent recurrent infections will benefit from a low dose of antibiotics to prevent new infections. For each child, the benefits of giving the antibiotics must be weighed against their drawbacks (antibiotics also kill beneficial bacteria in the gut).

Financial side of caring for a child with a disability
Caring for a child with a disability often involves additional costs. There are several laws that cover care for children with disabilities.
In addition, there are schemes that parents can use to get compensation for these extra costs.



Counseling
A social worker or psychologist can provide guidance on how having this disorder can have a place in daily life. It often takes time for parents to come to terms with the fact that their child's future expectations look different than may have been expected.

Contact with other parents
By placing a call on the forum of this site you can try to get in touch with other children and their parents/caretakers who are also dealing with the 1p duplication syndrome.

What does having the 1p duplication mean for the future?
Permanent disability
Children with developmental delays often continue to have limitations in daily life. Some of the young people are able to live independently. Another part of the youth continues to need help in organizing daily life.

Transition of care
Between the ages of 16 and 18, care is often transferred from child specialists to specialists who provide care to adults. It is important to think about this in good time. Is there a need to transfer care to adult specialists or can the primary care physician provide the care that is needed.And if there is a need to transfer care to adult specialists, to which physician(s) will the care be transferred? In which hospital can the care best be delivered. The process of transferring care is called transition. It is important to think about this early and make a plan for it together with the doctors involved in pediatric care.
Also, when a young person reaches the age of 18, a lot of things change. For more information on these changes, we refer you to the article Changes in Care 18+.

Life expectancy
It is not likely that the life expectancy of a child with 1p syndrome is different from that of other children.

Children
Children of an adult with the 1p duplication syndrome have a 50% chance of having the 1p duplication themselves. It is impossible to predict in advance who will or will not develop symptoms.

Do siblings also have an increased risk of developing 1p duplication syndrome?
The 1p duplication syndrome is caused by an error in the genetic material of the first chromosome. Often the error is created in the child itself. The chance is then very small that a brother or sister will also get the 1p duplication syndrome.
If one of the parents has the 1p duplication syndrome, then siblings have a 50% chance of getting this error themselves. Not everyone with the error actually gets symptoms from it. A clinical geneticist can give more information about this.

Prenatal diagnosis
When it is known which error in a family has caused the development of 1p duplication syndrome, it is possible to perform prenatal diagnostics during pregnancy in the form of chorionic villus testing or amniocentesis to see if this child also has 1p duplication syndrome. Both procedures have a small risk of causing a miscarriage (0.5% with chorionic villus testing and 0.3% with amniocentesis). The results of these tests take two weeks. For prenatal diagnostics, a pregnant woman can be referred by the family doctor or midwife to a clinical genetics department by the 8th week.

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