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16 Cognitive State, Behaviour andSelf-Assessment ofPatients withSyndromic Craniosynostosis

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16.5.7 Post-Traumatic Stress Disorder andtheAmount ofOperations

Surgery for craniosynostosis implies a relevant strain on the child and the parents. Pain, complications of each operation or specic complications unrelated to craniosynostosis, such as prematurity, meningitis or trauma, will stress the child [43].

16.6 Behaviour ofPatients withSyndromic Craniosynostosis

Patients with craniosynostosis, syndromic or non-syndromic, often face social discrimination. Their facial appearance is typically considered to be less attractive and is often stereotypically considered as less capable, less intelligent and less honest. Their facial appearance interferes with personal life, employability and social interaction. Many investigations have shown that disguring conditions can lead to various psychosocial problems such as high level of social anxiety and social avoidance and poorer quality of life. There is a growing body of literature pointing to an increased prevalence of learning difculties, attention-decit/hyperactivity disorder [34] and social and behavioural dysfunction in school- aged children with syndromic and non-syndromic craniosynostosis as they mature [1]. Higher levels of behavioural and emotional problems are related to lower levels of intellectual functioning [34].

Non-syndromic or syndromic craniosynostosis patients with an IQ lower than 85 have a strongly increased risk of behavioural problems, similar to all other children without craniosynostosis [1]. Children with Apert syndrome often present with clinical features of hyperactivity [8] and other signs of attentiondecit disorder. It is important to note though this could be part of the syndrome or related to an extraneous variable such as sleep disorder or head shape.

16.7 Self-Assessment

16.7.1 Psychosocial Aspects

Both the genetic changes and their outcomes but also the medical treatments, operations and factors involved around the various treatments inuence psychosocial aspects. Furthermore, severe craniosynostosis is not only inuencing the patient’s life but also their families, friends, schools and workplaces [1]. The following stages can be differentiated:

1. Age until the rst operation: Uncertainty about the diagnosis and expected development, coping of the patient and parents, the abnormal appearance, education and having to deal with contrasting explanations in the hospital. This time period can however serve as a framework for early intervention [1].

2. Age until rst school: Choosing a school often is difcult. The availability of trained social workers varies widely.

3. Age until puberty: Inuenced by the success of operations, differing greatly among gender.

4. Age after reaching adulthood: Inuenced by unoperated areas or the aftercare of treatments.

16.7.2 Quality ofLife (QoL)

QoL is an important tool in measuring healthrelated outcomes in clinical medicine. The overall quality of life is lower in patients with syndromic and complex craniosynostosis [2, 4]. However, more recent studies indicate counterintuitive ndings: adult syndromic patients with similar cognitive capacity perceive their QoL as being above that experienced in a normative non- syndromic population with no correlation to the degree of facial difference [44], and both the highest-functioning Apert patients and the Crouzon patients presented a satisfactory quality of life, demonstrating that these syndromic patients had acquired the necessary repertoire to manage the adverse daily situations of their lives [45].

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16.7.3 Patient’s View andParentalView

Parents of a child with syndromic craniosynostosis suffer from different obstacles: many referrals, unnecessary or inaccurate or incorrect diagnostics and receiving incomplete or incorrect information. As the child and the parents are the persons who have to cope with the main stressors and strains associated with their child’s disorder and its treatment, their opinions should ideally be part of any outcome evaluation. This topic has not been adequately addressed in the medical literature [46]. An important factor to keep in mind in these parent–patient settings is the possibility of a signicant disruption in the mother–infant attachment and bonding process in the group of malformed infants. Early corrections may help to minimize any disruption in the mother–infant bonding process [37].

16.7.4 Suggestions onhow toApproach Treatment

Coordinated care is necessary, given the complexity of the medical, surgical and psychosocial factors. Early intervention can lead to fewer operations. Care in a team setting is essential because outcomes are measured throughout the child’s growth and development. Until recently however, there was no consensus on the parameters of care [30].

Regular screening on obstructive sleep apnoea, ophthalmologic disorders and hearing decits to allow a timely intervention according to the individual needs to allow full cognitive development and coping mechanism for the patients and their families is important. There should be a regular control of the wishes of the patients and parents. Objectively showcasing the therapies of choice and their potential success is of special relevance. One personal/care coordinator for the families to approach who handles and supervises the multidisciplinary treatment should be the leader and should be easily accessible for the patients. The interdisci-

plinary treatment team must be established as an integral part of the social network of patients. Regular consultations alongside the therapies are advisable. If operations are necessary, it is of special relevance that an appropriate postoperative pain management is delivered. Assessment of cognitive functioning, behaviour and psychosocial functioning is considered an essential aspect of follow-up care for children with craniosynostosis, both non-syndromic and syndromic [47]. Future research directions should ideally centre on examining interrelationships between cognitive, genetic, neurologic and morphologic factors so that predictors and correlates of cognitive outcomes can be explored in these disorders [11, 36].

16.8 Recommendations onAssessing thePatients’ Quality ofLife

Based on existing questionnaires on patients with facial disgurements, we developed a modied questionnaire. This questionnaire offers an approach of acquiring comprehensive medical, social and psychological assessment of patients and relatives (parents).

It is based on established scientic QoL tools, but subsequently adjusted by a multidisciplinary working group involved in treating patients with craniosynostosis and related professional disciplines and involved groups such as the self-aid group in Germany with the intention of standardizing the approach on how to evaluate and manage patients with severe craniosynostosis—a view similarly shared by other authors [47].

It must be noted that all data should be interpreted with caution, as the number of participants in studies is generally low. This is the weakest point of all studies, but difcult to overcome, since craniosynostoses are rare diseases. Therefore, it is difcult to recruit a larger number of patients and create homogeneous groups for comparison. In general, the groups are heterogeneous, since also surgical procedures and results differ in between studies [48].

16 Cognitive State, Behaviour andSelf-Assessment ofPatients withSyndromic Craniosynostosis

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Quality ofLife Questionnaire ofPatients withSyndromic Craniosynostosis

Please ll out both parent parts. (Additional questionnaires are attached.)

This questionnaire is based on internationally approved questionnaires (CHQ, OPQOL-35 for

Please answer every question. There are no correct or incorrect options.

adults and kids), but modied for patients with syndromic craniosynostosis.

Please choose the most appropriate option

available to you.

Objective Evaluation oftheAnamnesis andTherapies

General information Parent I Parent II Kid Gender m/f/d m/f/d m/f/d Date of birth Occupation Highest degree of education

(year) Time of diagnosis (and which syndrome) Time(s) of operation(s) Amount of operations

Affected body parts If parent is affected (I/II) Kid Maxillo-facial Please ll in Ear–nose–throat Eyes Neurology Orthopaedics Psychology

◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy ◦Healthy

Additional information may be added separately (results, doctor statements, etc.)

If parent is affected (I/II) Kid Current therapies Surgery Please ll in No/km No/amount No/km No/amount Orthodontics No/km No/amount No/km No/amount Logopaedics No/km No/amount No/km No/amount Physiotherapy No/km No/amount No/km No/amount Ergotherapy No/km No/amount No/km No/amount Additional med. Cond. No/km No/amount No/km No/amount

Planned therapies If parent is affected (I/II) Kid

◦Yes ◦Please ll in ◦Please ll in

◦No

Subjective Evaluation oftheMedical Condition andits Aspects

Journey X-rays Journey X-rays

◦Yes

◦No

Second, kids ll in the kid’s part. (2. B)

– Ask your kid(s) if they are older than 10years. – Guess the most appropriate answer for you

First, parents ll in the parent’s part. (2. A).

kid(s) if they are younger than 10years.

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A—Parent I/Parent II

Parent’s estimation of the bodily situation of their kid(s) ◦Very good ◦Good ◦Neutral ◦Bad ◦Very bad

Parent’s estimation of the emotional situation of their kid(s) ◦Very good ◦Good ◦Neutral ◦Bad ◦Very bad

I do not agree I slightly disagree I don’t know I slightly agree

I fully agree Keeping in mind all of what’s positive and negative in your life, How would you describe your life generally? I am content with my life.

I am happy most of the time.

I am happy about what’s to come in the future.

Many things seem difcult in my life.

I have a lot of energy.

Pain is inuencing my life.

Due to my medical condition I need help at home.

I am healthy enough to be independent.

Family and friends are of great help.

I yearn for more joy or social contacts.

I can share my life with somebody.

I have kids which are important to me.

I have a strong connection with my kid(s).

I have more, non-syndromic kids.

The medical condition of my kid(s) is a burden for its siblings.

I cannot devote my time evenly among my kids.

The birth of my kid was a traumatic experience in my life.

I have experienced fear and sorrow for my kid.

I have learned to cope with the medical situation of my kid(s).

I have control over my life.

Do you have psychological counselling?

Was the psychological counselling adequate?

As parents we are able to distribute the responsibilities evenly.

I can work for my own nancial freedom.

I have enough money to pay all bills.

State insurance sufciently covers all needed therapies.

The choice of kid’s school was simple.

16 Cognitive State, Behaviour andSelf-Assessment ofPatients withSyndromic Craniosynostosis

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I am content about the educational programme of my kid’s school.

The medical condition of my kid caused him/her to have developmental issues.

The developmental issues of my kid were easier to handle than expected.

My kid is well integrated into his/her school.

My kid’s behaviour is making it harder for him/her to have friends.

I take life for what it is and make the most of it.

There is more joy in my life than in others.

I try to see the positive in all things.

If there’s something I cannot do, I seek alternatives.

I have social activities and/or hobbies which I enjoy.

Due to my kid’s operations, I am absent at work frequently to look after him/her.

My responsibilities prevent me from pursuing more of my interest.

The operations of my kid are taking a toll on me.

Cultural/religious events are of great importance in my life.

The medical situation of my kid(s) is affecting my emotions.

The medical situation of my kid(s) is consuming much of my time.

The medical situation of my kid(s) is preventing me from doing the things I want to.

Due to the medical situation of my kid(s), I get to spend less time with my friends.

Due to the medical situation of my kid, nancial issues arise.

Medical staff is taking good care and advising me well on the situation of my kid.

Self-aid groups help me…

I feel supported with the medical situation of my kid(s).

The medical caretakers of my kid(s) are well connected.

The medical staff are handling my kid well.

Finding specialists was easy.

I feel well advised about the medical condition of my kid(s).

I wish to have more written information about the medical condition of my kid(s).

The medical condition of my kid is mostly described in a negative way.

Please feel free to make any additions or extra remarks to any of the topics mentioned or not mentioned.

259

B—Kid

– Ask your kid(s) if they are older than 10years. – Guess the most appropriate answer for you kid(s) if they are younger than 10years.

Score the extent of the specic symptoms.

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Head

Midface

Teeth alignment

Breathing/sleep

General looks

Hands

Feet

Additional symptoms (please ll in):

I do not agree I slightly disagree I don’t know I slightly agree I fully agree I am sleeping well.

Eating and drinking is easy for me.

There is nothing affecting my taste.

Speaking is easy for me.

I have no hearing issues.

My sight is good.

My ow of saliva is of no issue.

I can smell well.

I have to clean my face often (tears, runny nose, etc.).

Writing of manual tasks is easy for me.

I can tolerate my limitations well.

I am ne with the way I look.

I am often in pain.

Heavy work is easy for me.

I can move freely and well.

Pain affected my sleep during the last week.

I have to take medication regularly.

Each operation is affecting me greatly.

All of my operations went well.

My therapists make me feel safe.

I feel limited in my education.

I get along well with my classmates/colleagues.

Classmates/colleagues are isolating me.

My different appearance is accepted well.

I am content about my life.

I am happy most of the time.

I am looking forward to the future.

16 Cognitive State, Behaviour andSelf-Assessment ofPatients withSyndromic Craniosynostosis

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Much in life seems to be difcult for me.

I have a lot of energy.

Pain is inuencing my life.

Due to my medical situation I need help at home.

Getting to my therapists takes a lot of time.

I have had a lot of negative experience with specialized medical staff.

Friends and family are of great help.

I wish to have more social contacts.

There is somebody I can share my life with.

I have social activities or hobbies which I enjoy.

I take life for what it is and make the most of it.

I have more luck in life than others.

I try to see the positive in life.

If there is something I cannot do, I am looking for alternatives.

How many times were you in pain during the last week? None Seldom Sometimes Often Constant How long did the pain last? Seconds Minutes Hours Days The whole week How is your pain at different times? None Seldom Sometimes Often Constant

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Free Text/Doctor Statements

________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________ ________________________________________________________________________________

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