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Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_4533_Библиотеки_им_академика_М_И_Перельмана

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T. Mey er
neuropsychological development usually dis­played fewer psychosocial conditions. Although the quality of life in adult patients with cranio­synostosis is usually regarded to be lower than that of non-affected subjects, Lloyd et al. reported that adult syndromic patients with simi­lar cognitive capacity perceive their self-rated quality of life as being even better than that experienced in a normative control population with no facial difference [70]. Fischer et al. showed that adult patients with Crouzon syn­drome were less often married or had a partner when compared to a matched control group [71]. In their cohort of 31 patients and 285 controls, the authors reported that patients with Crouzon syndrome had fewer children of their own or experience of a sexual relationship while, in addition, they had a lower level of education. Stavropoulos and co-workers, who classied coping strategies in subjects with Crouzon syn­drome, named this adaptation “lowering the expectations of nding a love partner” [72].
Although syndromic facial deformity is often associated with neurodevelopmental delay, patients affected with some syndromes showed normal development and intelligence. Cognition and intelligence are usually unaffected in sub­jects with Treacher Collins syndrome, a rare autosomal dominant disorder of the craniofacial development resulting in dysostosis mandibulo­facialis and frequently also conductive hearing loss. Subjects with Treacher Collins syndrome showed no intellectual disability [73]. In a sam­ple of six adolescents with Treacher Collins syn­drome, ranging in age from 12 to 18 years, Beaune et al. found good psychosocial adjust­ment indicative of resilient adaptive strategies to balance the challenge of facial difference and social stigma [74]. A longitudinal study of par­enting stress revealed that mothers of infants with a single- suture craniosynostosis reported stable and higher stress levels than fathers [75]. A Swedish group from the University of Göteborg reported data from a small cohort of 66 patients aged 3years, who were operated on for nonsyn­dromal single-suture craniosynostosis. These patients did not differ from 180 randomly selected controls of the same age with respect to parental
estimation of psychological development [76]. In a sample of 179 school-aged children with single­suture craniosynostosis from the United States, modest differences in language and memory were observed when compared to 183 controls [77]. From these and other studies, neurodevel­opmental screening in infants with single-suture craniosynostosis may be justied [78, 79].
15.10 Summary andOutlook
Congenital craniofacial deformities may be asso­ciated with the risk of psychological problems, including social inhibition, low self-concept, externalizing problems, anxiety, and depression. However, having a facial difference can also fos­ter greater resilience and shape more effective and mature coping styles. To enhance the aes­thetic results, speech, self-image, and social com­petence in subjects with congenital craniofacial malformation, it is essential to identify the impor­tant determinants which modulate, both nega­tively and positively, their health-related quality of life. Given the complexity of measuring psy­chological adjustments and quality of life in pae­diatric and adult populations, currently available psychometric measures should be tested longitu­dinally and compared with each other. A particu­lar focus should be given to long-term effects of surgical interventions on psychological parame­ters, which requires further research efforts. In addition, the development of comprehensive, valid, and reliable psychological instruments would be a valuable addition to both patient care and clinical research studying the impact of sur­gical and non-surgical treatments for patients with congenital craniofacial malformations.
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Cognitive State, Behaviour
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andSelf-Assessment ofPatients withSyndromic Craniosynostosis
LennartPaulSarbock andUlrichMeyer
16
16.1 Introduction
Craniosynostoses are congenital disorders charac­terized by the early fusion of the skull’s sutures. In rare cases these early fusions affect more than one area. Patients sometimes show body involve­ment. The condition can be simple, non­syndromic, complex or syndromic [1]. The most severely diseased patients are syndromic, of which Apert, Crouzon, Muenke and Saethre– Chotzen are the most common. Additionally, there is a wide range of possible outcomes even within a specic disease [1]. The kind and extent of the disease, as well as therapeutic outcomes, have a major inuence on their life. Environment factors such as socio-economic status, schools and patient’s and parental view play also a crucial role (Table16.1, full details of patient-related fac­tors). Patients with syndromic and complex cra­niosynostosis are known to have a lower health-related quality of life (HRQoL) [2], while patients with isolated craniosynostosis score within the normal range for quality of life and behavioural problems [3]. Reasons for the lower
L. P. Sarbock (*) Geseke, Germany
U. Meyer Craniofacial Center, Kieferklinik Münster, Münster, Germany
University of Düsseldorf, Westdeutsche Kieferklinik, Moorenstrasse, Düsseldorf, Germany e-mail: info@kieferklinik-muenster.de
© Springer Nature Switzerland AG 2021 U. Meyer (ed.), Fundamentals of Craniofacial Malformations,
https://doi.org/10.1007/978-3-030-46024-2_16
Table 16.1 Inuential factors of cognitive state, behav-
iour and self-assessment
Patient-related factors Disease
Syndromic Non-syndromic
Organ involvement
Viscerocranium Neurocranium Limbs Body functioning Phonetics, speech Obstructive sleep apnoea Motoric skills Hearing Vision Smell Cognitive functionality Mastication
Surgery
Time of surgery Kind of surgery Number of operations Post-traumatic stress disorder Functional success of operation Aesthetic result
Environmental-related factor behaviour
Self-assessment Psychosocial aspects Quality of life (QoL) IQ School performance Formal education Socio-economic environment Physician–parental–patient interaction
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L. P. Sarbock and U. Meyer
HRQoL are problems concerning physical func­tioning, bodily pain and mental health [4]. Commonly reported health-related problems in syndromic craniosynostosis are hearing and visual disorders, masticatory impairments, sleep apnoea and hand and foot anomalies [5]. The prevalence and severity of these problems vary per syndrome. It is unknown to what extent they inuence the HRQoL and parents’ perceived quality of life. The impairments imply the need for multidisciplinary care, with a varied staff of specialists, including craniomaxillofacial sur­geons; plastic surgeons; neurosurgeons; geneti­cists; dentists; neurologists; speech and language pathologists; ear, nose and throat doctors; ortho­paedists; social workers; and others [6]. The aim of this chapter is to outline which areas are most crucial when treating patients with syndromic craniosynostosis, based on adjusting their sur­roundings to their functional decits to allow them to fully develop the maximum amount of cognitive skills within their limitations. The understanding of language and learning disorders observed in patients with syndromic craniosynos­tosis, relating to the several factors investigated, allows a better therapeutic approach and contrib­utes to the understanding of neuropsycholinguis­tic disorders, addressing the parallelism between biological aspects (neuronal connectivity and brain circuits as a whole) and environmental aspects (adequate stimulation by healthy affective and challenging cognitive interactions) [7].
16.2 Genetics andClassication ofPatients withCraniosynostosis
16.2.1 Classication ofSyndromic Patients
Mutations of FGFR2 are most common with 93%, FGFR3 mutations occur in about 5%, and FGFR3 mutations occur in 2% of cases reported by the American Journal of Medical Genetics in 1998 [
9]. Most cases are sporadic but there are
reports in which affected females have given birth to affected children [8]. The gender of syn­dromic patients is evenly distributed [8] and their parents tend to be older than 35years [10].
General classication of patients with syn­dromic craniosynostosis. Groups a–c show an increased risk of intellectual disability. For group d only a tendency towards intellectual disability has been shown so far [
(a) Apert syndrome. (b) Crouzon or Pfeiffer syndrome. (c) Muenke syndrome. (d) Saethre–Chotzen syndrome. (e) Complex craniosynostosis. (f) Syndromic trigonocephaly. (g) Frontal plagiocephaly.
1]:
16.2.2 Classication ofNon-
syndromic Patients
There is a large amount of research on the cogni­tive functions and behaviour of children with non­syndromic craniosynostosis [1]. Children with non-syndromic craniosynostosis are of normal intelligence during their school-age years [11,
12]. Some show a tendency to isolate themselves
and achieve slightly lower expressive language scores. However, the results of these studies vary greatly; some researchers report hardly any cogni­tive and/or behavioural problems in these children [1], while others report percentages up to 100%.
Non-syndromic craniosynostosis by classi­cation [1] according to the concerned suture is:
An autosomal dominant mode of inheritance is suggested by the equal sex distribution of affected children in those families [8]. While the aetiology remains not fully clear, the causative factor in syndromic craniosynostosis is a dominant muta­tion in one or some of three broblast growth fac­tor receptor genes: FGFR1, FGFR2 and FGFR3.
(a) Sagittal suture synostosis (scaphocephaly). (b) Metopic suture synostosis (trigonocephaly). (c) Coronal suture synostosis, unilateral (fron-
tal plagiocephaly).
(d) Coronal suture synostosis, bilateral (fron-
tal brachycephaly).
(e) Lambdoid suture synostosis (pachycephaly).
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16.3 Phenotype ofSyndromic Craniosynostosis: Aected Parts oftheBody andOrgans
While non-syndromic patients usually exhibit a premature fusion of a single suture, syndromic patients are affected not only in the skull area (neurocranium) but also in the viscerocranium, some of them have also whole-body involvement. As the most common disease, Apert syndrome shows affections also in the extremities (hands and feet). The involvement of all these structures inuences the life of patients, and therefore the most important are mentioned.
Midface: Skeletal hypoplasia of the midface and skull base changes functionality of the nose and eyes. Eyes can be protruding to various degrees and therefore may become dry if they cannot be shut fully. Correction of the affected vision is usually needed but there are cases of it being outside current possibilities.
CNS and brain morphologies: There are several studies showing the affected areas of the CNS, reporting congenital abnormalities of the CNS in 46.4% of patients [7]. According to the American Journal of Medical Genetics [13], these include malformations of the corpus cal­losum, the limbic structures or both. Other fre­quent ndings include megalencephaly, gyral abnormalities, encephalocele, pyramidal tract abnormalities, hypoplasia of cerebral white matter and heterotopic grey matter. Progressive hydrocephalus seems to be uncommon and has frequently been confused with nonprogressive ventriculomegaly in the past [13]. The foramen magnum is smaller in patients with craniosyn­ostosis syndromes compared to controls and is already smaller at birth. In addition to the tim­ing of intra- occipital synchondrosis closure, other factors may inuence foramen magnum size [14]. Multiple CNS and cervical spine (c-spine) abnormalities are common in Apert syndrome. The signicance of these abnormali­ties remains largely unknown [15]. It was shown that hydrocephalus occurred more fre­quently in children with complex craniosynos­tosis syndromes [16].
Further anatomy changes: They are usually seen in the mid-ear, which, in combination with frequent otitis media with effusion, can cause permanent damage to hearing or even loss of hearing.
Extremities (hands, elbows, feet) frequently show syndactyly in Apert patients; not all areas have to be affected at the same time. Changes to the oral cavity, lip and tongue include clefts, ano­dontia, size and or form discrepancies of the maxilla and mandible.
16.4 Phenotype-Based
Functionality Inuenced inPatients withSyndromic Craniosynostosis
A range of factors inuence the psychosocial development of patients. Intellectual deciencies of children with craniosynostosis may be overes­timated in the society, since impairments in pho­netics, speech and articulation and motoric skills, hearing and vision lead to a deciency in inter­personal communications and may be assessed by others as intellectual deciencies.
16.4.1 Phonetics, Speech
andArticulation
Syndromic and non-syndromic patients are both at an elevated risk of specic language/speech problems that are not necessarily the result of a lowered IQ [17]. Impaired speech and/or articu­lation must not be mistaken with overall intelli­gence. Causes for speech problems can be hearing decits, oral anomalies, learning disabili­ties or impaired social interaction [17]. In one study, abnormalities in language abilities were observed in 66.67% of patients (based on school achievement tests) [7]. Verbal scale IQ was con­sistently lower than performance IQ in all of these children [8]. In another study, normal speech and language development occurs in one in 1.7 patients with non-syndromic craniosynos­tosis. The authors warrant that speech therapy for such abnormal development is needed in one in
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3.4 of patients—a prevalence two to ve times higher compared with the general paediatric pop­ulation [18].
16.4.2 Obstructive Sleep Apnoea
Patients with syndromic craniosynostosis are at an increased risk to suffer from obstructive sleep apnoea syndrome (OSAS). OSAS in children is dened as a ‘disorder of breathing during sleep characterized by prolonged partial upper airway obstruction and/or intermittent complete obstruc­tion that disrupts normal ventilation during sleep and normal sleep patterns’ [19].
It results in a variety of effects such as hyper­capnia, hypoxemia and abnormal sleep architec­ture. Depending on the severity of the syndrome, vital dysfunctions to even fatal pulmonary heart disease may occur. Airway obstructions are more apparent during active sleep. There is a signi­cant correlation between severity of upper airway obstruction and increased intracranial pressure in active sleep. Intracranial hypertension is also fre­quent in this group [20]. The impact of OSAS on the quality of life (QoL) in children has been largely underestimated [21]. Between 40% and 68% of children with syndromic craniosynostosis will have OSAS but the means of making this diagnosis vary between studies [22].
show paronychia. Limitations in performing tasks may lead to impatience and frustration, which in turn results in a difcult learning curve. However, patients show increased performance IQs (than verbal IQs), which contradicts the ini­tial hypothesis of poorer visuo-motor skills related to hand deformities [
8, 10].
16.4.4 Hearing
Unlike patients with non-syndromic craniosyn­ostosis, patients with syndromic craniosynostosis tend to have hearing impairments [25–27]. Hearing loss can be an additional cause for devel­opmental delay in children who already have an increased risk of such delay [1]. One longitudinal study describes how, over time, persisting otitis media with effusion (OME) led to permanent sequelae such as atelectasis, perforation and cho­lesteatoma in patients with Crouzon syndrome [28]. Ear and hearing impairment rates increased from 37% in infancy to 62% in older patients [29], conrming the high prevalence of otologic diseases in such patients. Middle ear disorders were responsible for the hearing impairment also in patients with mixed hearing loss due to sec­ondary inner ear damage. Audiologic follow-ups are recommended.
16.4.3 Motoric Skills
As part of the phenotype of the craniosynostosis syndromes, deformities of the extremities are fre­quently seen, varying from very mild with hardly any functional consequences to very complex with very severe functional limitations [1]. Deformities of the hands and feet are symmetri­cal; brachydactyly and osseous or cutaneous syn­dactyly ranging from total to partial fusion, but at least involving the second, third and fourth digits, are present. Synonychia is present in some degree. The distal phalanges of the thumb and the great toe are often broad and malformed [23, 24]. Patients with (still) unoperated hands frequently
16.4.5 Vision
Common abnormalities include orbital hyper­telorism, telecanthus, abnormal slant of the pal­pebral ssures due to superior displacement of the medial canthi, ptosis, epiphora, proptosis and nasolacrimal apparatus abnormality, such as duct obstruction and punctal anomalies. Many of these manifestations are disguring and can threaten vision as a result of corneal exposure and globe luxation. Maintaining and restoring ocular and visual health are important parts of the overall care of a patient with isolated and syndromic craniosynostosis [30]. Additionally, high intracranial pressure over a longer period of time will destroy the optical nerve and may lead
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to blindness. Eyes can be protruding to various degrees and therefore may become dry if they cannot be shut fully. Correction of the affected vision is usually needed, but there are cases of it being outside current possibilities. This impairs the capabilities of learning social interactions and results in a lowered QoL.
16.4.6 Smell
A potential loss of this sense will lead to the patients missing out on potentially important environmental information. There is some clini­cal evidence that olfactory function is not signi­cantly altered on the biological basis of craniosynostosis, but iatrogenically induced; however, there aren’t many studies. A loss of smell may be the result of fronto-basis operations like fronto-orbito-nasal advancements or Le Fort III distraction.
16.4.7 Brain Functionality
but a primary contribution of hydrocephalus to mental retardation in craniosynostosis appears minimal [33]. Hydrocephalus in the complex cra­niosynostosis syndromes occurs not as a late manifestation of uncorrected synostosis but, in most cases, secondary to intrinsic abnormalities in the embryologic development of the brain, pre­sumably related to the defective formation of the cranium [16]. The incidence of hydrocephalus and mental retardation in craniosynostosis is lower than reported previously [16]. Early hydro­cephalus can result in an uneven growth of intel­ligence during childhood. The cognitive decit is neither due to the hydrocephalic condition itself or its treatment, but rather the development of brain anomalies and symptoms to which the hydrocephalic child is prone [34]. Malformations of the corpus callosum and size of the ventricles seem to play no role in the nal IQ, whereas anomalies of the septum pellucidum seem to have a signicant effect, with the proportion of patients with an IQ over 70 increasing more than twofold in patients with a normal septum com­pared with patients with septal anomalies [35].
Cohen and his colleagues [23] assumed that men­tal delays were due to the increased intracranial pressure and elevated cerebrospinal uid pres­sure that are found in patients with syndromic craniosynostosis. However, they also emphasised that the pathogenesis of this raised intracranial pressure and of the variable hydrocephalus, often but not necessarily associated with it, is largely unknown [8, 10]. Premature fusion of skull sutures presumably restricts skull growth and predisposes to elevated intracranial pressure. In another study [31], 20% of patients had raised intracranial pressure and demonstrated a signi­cant restriction of skull growth. However, mental retardation is related not only to raised intracra­nial tension but also to important structural changes in the brain [32].
Mental retardation may also relate to the development of hydrocephalus, given the pro­gressive destruction of axons and secondary myelin loss that may accompany this condition. Such a process may be operant in some instances,
16.5 Cognitive Aspects: Potential Risk Factors toCognitive Aspects andBehaviour
16.5.1 IQ
Intelligence varies greatly per syndrome, but also within every syndrome [2]. Syndromic patients have a high to very high risk of a lower IQ.Due to impaired speech, a potential hearing loss, an altered sense of smell and/or an impaired vision, their learning abilities are strongly inu­enced and need the highest attention on a regular basis to adjust to their individual needs. A pre­dictable outcome is subject to change if treat­ments occur timely. In the studies that have been conducted so far, it is important to note that an average IQ was found among most patients. More modern research indicates a higher per­ceived QoL, a potential motivation for future parents, because ndings are contrary to the his-
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torical impression that has regarded syndromic craniosynostosis as synonymous with intellec­tual disability [11, 36]. Reduced IQ and behav­ioural problems are negatively correlated [1]. Various studies [7, 8, 11, 16, 17, 37] show a high variety of IQ measurements. The wide intellec­tual variability is contributed to by overall adap­tive functioning. More detailed evaluation of the array of cognitive skills, beyond intelligence, that contribute to the overall adaptive function­ing would help elucidate whether the current sample of children displayed cognitive decits in areas that may not be detectable by means of intelligence testing alone [11].
16.5.2 Socio-Economic Status
Family environment is an important factor involved in intellectual achievement. Its quality inuences the mental development: 12.5% of patients who were institutionalized or in difcult family situation have an IQ >70 compared to 39% of those who live in a normal family. All the institutionalized patients in this series were chil­dren who were abandoned at birth, and therefore, mental retardation appears to be the consequence rather than the cause of institutionalization [8,
35]. Several authors [38–40] have stressed the
‘irreversible tragedy of the institutionalization’ [39] of these children. Frequently, children with Apert syndrome are misdiagnosed as mentally retarded solely based on their appearance and are withdrawn from regular schooling where they may well have coped. Children with syndromic craniosynostosis should be kept in a normal fam­ily environment and actively stimulated with the aid of psychologists [35].
16.5.3 School
Acceptance within the school may vary vastly from case to case. Isolation due to avoidance of conicts or uncomfortable situations can be fre­quently observed. Therefore, learning is inu­enced and may result in lowered IQ.
16.5.4 Gender
For all genders, the beginning of puberty marks a change in perceived situations. Patients might start developing a reluctance to be treated. The development of the child’s self-perception and self-condence is mainly inuenced by their parents [1]. Aesthetics are perceived as a greater issue for female patients. Surgical out­comes must be communicated to avoid mis­matched expectations.
16.5.5 Success oftheOperations
The kind of clinical outcome is dependent on the quality of conservative and surgical therapies. The outcome will improve in centres with an extensive experience with these patients. A wide range of possible complications from the very rst operation and all treatments throughout the years until the patient’s adulthood may inuence the outcome. Beneath the objective results of operative procedures, communication between patients, parents and physicians is always key. Often the physicians are more content about the surgical outcome than the patients might be, if not explained properly beforehand. Young chil­dren with congenital facial deformities usually rate their appearance more favourably than do their parents and strangers, but that these self­ratings of appearance and self-esteem sharply decrease in adolescence [41].
16.5.6 Timing ofSurgeries
The timing of surgery for craniosynostosis is still controversial [42]. The age at operation appeared to be the main factor associated with changes in mental development in one study [35]. The nal IQ was greater than 70in 50% of patients oper­ated on before 1year of age versus only 7.1% in patients operated on later in life [35]. Self-esteem improved signicantly after surgery. The mean increase was 29% (range 2–49%) which is highly signicant [8].
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