Selected Pervasive Developmental Disorders

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Selected Pervasive Developmental Disorders
HEALTH AND WELLNESS 2/2015
WELLNESS AND SOCJETY
CHAPTER XI
1
Department of Neurological Nursing,
Faculty of Nursing and Health Science,
Medical University of Lublin
Wydział Pielęgniarstwa i Nauk o Zdrowiu,
Katedra i Zakład Pielęgniarstwa Neurologicznego,
Uniwersytet Medyczny w Lublinie
2
Clinic of Paediatric Neurology,
Faculty of Paediatrics,
Medical University of Lublin,
Klinika Neurologii Dziecięcej, Katedra Pediatrii,
Uniwersytet Medyczny w Lublinie
3
Pulawy Public Hospital, Department of Paediatrics
Samodzielny Publiczny Zakład Opieki Zdrowotnej w Puławach
Oddział Dziecięcy
4
Lukow Public Hospital, Department of Paediatrics
Samodzielny Publiczny Zakład Opieki Zdrowotnej w Łukowie,
Oddział Dziecięcy
5
Lublin Clinical Hospital No4 in Lublin
Samodzielny Publiczny Szpital Kliniczny Nr 4 w Lublinie,
MIROSŁAW JASIŃSKI1, MAGDA CHROŚCIŃSKA-KRAWCZYK2,
EWA ZIENKIEWICZ2, MARCIN BRYCZEK3, MATYLDA OPOLSKA4,
EWA JASIŃSKA5, JOANNA DUBELT2
Selected Pervasive Developmental Disorders - a current look
Wybrane jednostki Całościowych Zaburzeń Rozwoju
– aktualne spojrzenie
Key words: ASD, Rett Syndrome, Asperger Syndrome, ADHD
Słowa kluczowe: ASD, Zespół Retta, Zespół Aspergera, ADHD
Asperger Syndrome, autism, atypical autism, Rett Syndrome, hyperkinetic disorders (ADHD) are increasingly often diagnosed and pose a serious problem in neurology, psychiatry and psychology. They are not only a huge social problem, but most
of all a great burden for families taking care of an ASD child.
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ASD, or pervasive developmental disorders (acc. to ICD-10) involve:
1. Disorders of social interactions;
2.
Disorders of the verbal and non-verbal communication;
3.
Limited patterns of behaviour, interests and activities.
The prevalence of ASD in the total population is 0.1-0.6%, with a prevalence of
males (3-4:1); ASD occurs in 1 of 91 children between 3 and 17 years of age, and in
1 of 110 8-year-olds [1].
ASPERGER SYNDROME
Asperger Syndrome was first described in 1944 by the Austrian doctor Hans Asperger [2], a specialist in paediatrics and psychiatry. In his practise he observed development of some characteristic features as early as at the age of two years, remaining unchanged for the rest of patient’s life, including limited contacts with other people, difficulties with expression of emotions, poor motor coordination, particular interests, over-intellectualisation. A child with AS, despite timely development of
speech, may present other speech-related problems: poor prosodic modulation, abnormal pitch (e.g. too fast), fluency (e.g. jerky) or loudness. Patients seem sometimes
incoherent because of a tendency for monologues, most often on a particular topic
interesting for the child, and continued despite lack of listener's interest. Although
affected children have good fragmentary, reproductive memory (e.g. numbers of
houses, buses, important dates) they encounter problems with mechanical learning at
school, except for subjects fitting to their individual interest. Patients are highly egocentric, do not consider any differences of age, social positions and standards, or rules
of politeness.
According to the ICD -10 classification, the diagnosis of Asperger Syndrome requires meeting the following criteria:
a) no clinically significant delay in speech and speech understanding, or development of cognitive functions:
 before the age of 2 years, and communicative sentences before the age of 3,
or earlier,
 self-service, adaptive behaviour, interest in the environment during the first 3
years of life at the level corresponding to the intellectual development,
 motor development phases may be slightly delayed,
b) qualitative abnormalities in the scope of mutual social interactions,
c) intensified, isolated interests or stereotypical behaviour, actions,
d) disorder cannot be perceived as another form of PDD, simple schizophrenia, obsessive-compulsive disorders, anankastic personality, disorders of attachment [3].
In 1989 Christopher Gillberg defined criteria of AS, accepted by clinicians
throughout the world.
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Marcin Bryczek, Matylda Opolska, Ewa Jasińska, Joanna Dubelt
Selected Pervasive Developmental Disorders - a current look
The criteria include: impairment of social interaction (extreme egocentrism), allabsorbing narrow interest, imposition of routines, particular speech and language,
non-verbal communication problems, motor clumsiness.
Based on Gillberg's criteria Swedish scientists had carried an examination of children in the city of Göteborg, age between 7 and 16 years, and diagnosed AS in 3.6 in
1000 tested individuals, with the boy to girl ratio of 4:1. However, considering also
those children who had not perfectly met the Gillberg's criteria but had been diagnosed
with AS, it may be assumed that the disorder occurred even more often, that is in 7.1
in 1000 of tested population, with the boy-girl ratio of 2.3:1 [4].
The question seems to be important: how are children with AS different from children with autism?
Despite the seemingly similar character of those disorders at an early stage, with
time patients with AS manifest higher intelligence level and better social adaptation,
their eloquence increases as well as interest in other people, and therefore their overall
function in the society and family improves [4].
Pathomechanism of the disease remains unclear. Genetic and psychological factors may play their roles.
According to M. Mahler and M. Klein, point at the role of traumatic experience of
a child in its first months of life, preventing it from exiting from the first psychotic
phase (symbiotic autism) and blocking its further development [5]. Inhibition of mental development may be also associated with arrest of organisation of neurophysiological processes. According to biological concepts, autism is a variable-grade behavioural reaction to damage of the central nervous system [3].
There are two theories explaining social and cognitive function of AS and autistic
patients: the mental deficit and central incoherence. The theory of "mental blindness"
involves inability to assign mental states to people in order to explain and foresee their
behaviour. Inability of recognising what do others feel or think, or what they express
non-verbally. Poor central coherence makes combining pieces of information into one
impossible. That prevents an individual from discriminating between important and
trivial things. Numerous problems associated directly with care of a child with AS
require great efforts to create conditions favouring making contacts with peers, education and social development.
Therapy of AS patients involves the training of emotion expression, improvement
of social contacts, and educational psychotherapy [3]. Pharmacotherapy involves only
reduction of symptoms of anxiety, depression and aggression. Sometimes the patient's (especially adult one) solitude makes him/her visit a psychiatrist or a psychologist. An especially important role is played by patient's environment, particularly the
closest family. Favourable conditions may increase the patient's chance for marriage,
independence and education.
AUTISTIC DISORDER
Autism was first described in the 19th century by a French physician Itard. However, Leo Kanner - an American psychiatrist - is recognised as the "father of autism".
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In 1943, in the paper entitled "Autistic disturbances of affective contact" Kanner described 11 cases of children demonstrating some common features, including: no ability to create relations with other people, verbal communication disorders, stereotypical behaviour [6]. A syndrome of those symptoms has been named by Kanner as "infantile autism”. First epidemiological studies on prevalence of autism were carried out
by V. Lotter in the UK in 1960s. On their basis the prevalence rate of autism was
estimated at 4-6 in 10000 [7]. Studies completed in 1990s indicate the rate of 10-20
in 10000 [7]. Recent epidemiological studies suggest that autism prevalence rate still
increases. The disease is four times more common in boys compared to girls [8; 9]
Aetiopathogenesis of autism is not fully understood. Early studies favoured opinions of psychogenic origin of the disease. According to that therapy, a child became
autistic as a result of a traumatic event at early stage of life, and further development
of pathological symptoms was a result of abnormal relations between an infant and a
"cold" and rejecting mother. Kanner is the author of the concept of a "cold" mother.
However, he withdrew from this theory later on [7].
Currently the disease is considered a multifactorial. Manifestation of the disease
probably depends on genetic and environmental factors [10]. Numerous studies indicate that an organic injury of the CNS is a cause of AD. However, no particular injury
of cerebral structures has been indicated that would be responsible for development
of pathological symptoms. According to the most recent studies, changes in the CNS
present in autism are not located in a single particular region fo the brain, but involve
its various structures [11]. Neuroimaging performed in autistic children indicated increased volume of the gray matter and of the brain [11]. According to Plauche Johnson
et al. macrocephalia was diagnosed in 20-30% of autistic children. McAlonan et al.
studies demonstrated also abnormalities in the anatomy and structure of the limbic
system [9]. Changes within the cerebellum and the temporal lobe of the brain were
also found in autistic children [12]. Neurobiology of autism has recently targeted its
attention to the question of mirror neurons. They were discovered in early 1990s by a
group of Italian scientists led by Giacomo Rizzolati in the Parma University. It is a
group of neurons that become activated during some actions or observing those actions performed by other people. In humans, mirror neurons are probably responsible
for some emotions, including empathy, recognition of some emotions and intentions.
They are activated both when an individual experiences an emotion, and when that
emotion is observed in others. It is suspected that symptoms of autism may be associated with disturbed and abnormal function of mirror neurons [13].
Recent studies are directed on the search for a genetic background of autism. An
association of autism with the brittle chromosome X syndrome is suggested [14].
Studies published by Christian et al. and Weiss et al. prove that the genetic mechanism
associated with autistic disorders are chromosomic abnormalities, including: microdeletions and microduplications [15; 16]. Moreover, genetic studies suggest the association of the disease with the, so called, "autism markers", including C-Harvey-nos
oncogen and the EN 2 gene. However, despite being advanced, genetic studies fail to
explain what kind of genetic pathology may play a role in autism pathogenesis. Multigene inheritance of the disease seems to be the most probable. There are some reports
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Selected Pervasive Developmental Disorders - a current look
stating that also a single gene mutation may lead to autistic disorders in animal experimental models [17]. Another area of modern studies on autism aetiology is the field
of synaptic transmitters, and particularly the increased serotonine level observed in
patients, as well as epinephrine and norepinephrine transmission disorders. An excessive activation of opioid receptors in the brain and changes in oxytocin neurotransmission are considered. Melke et al. found a low melatonine level in patients with
autistic disorders. Studies are also on their way on the role of the autoimmune system
in autism aetiology. Presences of antibodies against myeline proteins, as well as an
increased level of basophils and eosinophils were found in affected children. An association between autism aetiology and the combined vaccine against measles,
mumps and rubella (MMR) is highly controversial and disputable. Research proves
that association non-existent. No neurological disorders typical for autism have been
detected, although all affected people demonstrated some abnormalities. Mental impairment is the comorbidity occurring in most of children. Affected children often
present behaviour and emotion disorders in for of hyperkinesia, attacks of anger and
aggression. They are often prone to self-mutilation.
AD is characterised by occurrence of four groups of features. They are:
1. Social function impairment
2. Communication disorder
3. Limited and repeated pattern of interests and activities
4. Early onset
Social communication disorders occupy the central place in the autism clinical
presentation. Abnormal relations between mother and child are a very important signal forecasting development of autism. Autistic child does not focus its gaze on mother's face, and looks somewhere in space, as if looking through a person, not at it. The
symptoms are referred to as "empty" look. Moreover, autistic child does not react to
stimuli and signals from its mother. Avoids physical contact, does not smile at the
mother's sight. Gets stiff when hugged. Stereotypias appear already in early months
of life. During the infantile period they are most commonly: turning hands and moving
fingers very close to eyes. Autism is often accompanied by sleep and appetite disorders [18; 7]. The most characteristic symptoms appear at the age of 2-3 years: speech
development disorders and inability to set the social communication. A child pays no
attention to other people. It is as if the surrounding world was outside its field of interests. Avoids physical contact: hugging or kissing. Persistent symptoms are: avoiding visual contact and no emotional reactions. Older autistic children are unable to
socialise with peers. They do not participate in plays, and remain outside a group.
Autistic children demonstrate stereotypes at play: start mechanical toys over and over
again, or arrange objects in lines, always with the same order. Intact and unchanged
surrounding is very important for them. Even slightest changes cause disturbance and
anxiety. Disturbed order may trigger aggression, motor restlessness and intensification of stereotypical behaviour. Speech development disorders are a characteristic,
although not specific, sign of autism. Affected children usually stop at the stage of
babbling or cooing. At the age of 4-5 years, first words and simple sentences may
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appear, but they are not used for interpersonal relations. A typical sign in the field of
speech disorders is echolalia - repeating words or syllables. Autistic child does not
respond to questions, but often repeats them with the same words and voice intonation.
Personal pronouns are often incorrectly used, e.g. "you" or "him", instead of "me".
Children often cover their ears, as if they did not want to listen. Sometimes they do
not react to laud speech, but may react with panic fear to whispers or rustle [7; 18].
The limited and repeated pattern of activities and interests involves: resistance to any
changes, attachment to routine behaviour and rituals, waving hands, attachment to
unusual objects (such as a trash bin), complete focus on selected objects (e.g. timetables or car parts).
In vast majority of cases the development of autistic children is abnormal from the
very beginning. Inhibition of seemingly normal development at the age of 2 or 3 years
is less common. In that case, after a period of normal development there is a regression
phase, in which the child loses the previously acquired skills of communication, social
interaction and play.
Both in case of suspected and confirmed autism, the following investigations
should be performed: EEG, neuroimaging (CT or MRI), genetic tests (the karyotype
should be assessed in each case and a test for the brittle chromosome X syndrome),
investigations for metabolic diseases and prenatal viral infections [19]. In the diagnostic practise the following scores are used for the diagnosis of autism:
1. Checklist for Autism in Todllers (CHAT) by S. Baron-Cohen, J.Allen, C. Gilberg;
2.
Childhood Autism Rating Scale (CARS) by E. Schopler, R. Richler, B.Renner;
3.
Autism Behavior Checklist (ABC) developed by D.A .Krug, J.R. Arick and
P.J. Almond;
4.
Asperger Syndrome Diagnostic Scale (ASDS) by B. Myles, S. Bock and S.
Simpson;
5.
Gillberg's Criteria for Asperger Syndrome;
6.
Southern California Sensory Integration Tests (SCSIT).
Despite existence of many therapeutic methods applied to children with PDD,
there is no therapy or medication that would prove 100% effective. The therapy should
involve behavioural and educational approaches [20]. Despite existence of many therapeutic methods applied to children with PDD, there is no therapy or medication that
would prove 100% effective. The most commonly used and the most popular one is
the behavioural therapy. The therapy is aimed at education of correct and elimination
of incorrect behaviour. Currently applied methods include: sensory integration, W.
Sherborn therapy, VIT (video-training), individual work with a psychologist, speech
therapist, social skill training, methods based on the applied analysis of behaviour,
facilitated communication method, dog therapy, hippotherapy, music therapy [7; 20].
Pharmacotherapy is used for treatment of coexisting disorders. Selective serotonin
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reuptake inhibitors are used for obsessive-compulsive disorders, Risperidone for aggression and irritability, Melatonine for sleep disorders [21]. Parents of autistic children are highly interested in gluten-free and casein-free diets. However, there are no
reliable scientific data that would support the use of those diets in autism.
Nearly a half of autistic children learn how to speak. The best therapeutic effects
are achieved in fields of emotional development and socialising. The prognosis is
more favourable for those children who developed autistic symptoms after a previous
period of normal development. In adult life, approx. 10% autistic people works and
functions independently. However, only few have good friends, marry and become
parents [18].
Despite extensive studies on aetiopathogenesis and therapy of autism, the problem
remains unsolved. Recent studies indicate that both genetic and neurological factors
play an important role in pathogenesis of autism. The only chance for affected children is early diagnosis and introduction of an appropriate psychotherapy. Nevertheless, only few people affected by autism are able to lead an independent life.
Rett Syndrome
Rett Syndrome (RTT) is a group of coexisting clinical symptoms of the nervous
system (tremor, stereotypy, absence of speech, hyperventilation, episodes of apnoea,
dystonia and other), the gastrointestinal system (gastric reflux, constipation) and the
osseous system (short height, scoliosis, osteoporosis and other) [22].
Rett Syndrome was first described in 1966 by Andreas Rett, who observed the
same motor disorders - stereotypic hand movements – in two girls awaiting appointment at his office. Disorders are caused by mutations in the gene MECP2 with the
locus geni at Xp28, and in sporadic cases also mutations of other genes: CDKL5
(STK9), NTNG, MEF2C or FOXG1. Pathogenesis of RTT is associated with abnormal function of MeCP2, a transcription factor acting on target genes as a repressor or
activator of their transcription, depending on the neuronal homeostasis [23].
According to numerous authors, the mutation in the gene MECP2 is lethal for
males [24], although single cases of RTT in boys have been reported [25]. According
to statistics, RTT occurs in 1 in 10,000-15,000 births, although the real number of
patients may be higher, because of misdiagnosis [26].
The clinical presentation of RTT may be classified as: classic, atypical and clinically different with preserved speech.
The classic form is characterised by a specific course divided into 4 phases [27].
During the first phase a child's psycho-motor development and head circumference
appear normal. The phase is approx. 18 months long [27]. Subsequent phase involves
developmental arrest. The phase often lasts until the child is 1 to 4 years old. A slow
regression is observed during that phase; both in terms of motor and intellectual development, and head circumference becomes reduced. Loss of purposeful hand movements is characteristic, and their replacement by repeated movement patters, e.g. clapping, tapping, putting hands to mouth. The third phase is between the age of 2 and 10
years - it is a phase of apparent stagnation. Further regress in development is observed,
but child's behaviour improves (it is more calm and cries less). The last, fourth phase
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lasts throughout the adulthood and is characterised by deteriorating motor skills, muscular atrophies and scoliosis [27].
Atypical Rett Syndrome form is characterised by a more clinically severe course,
absence of the period of normal development, congenital muscular hypotony and infantile spasms. The different form is characterised by preserved speech, and late onset.
Course of the disease is complicated by characteristic frequent atrioventricular and
endoventricular conductivity disorders, as well as extended QT interval, and T wave
abnormalities [28; 25].
Bone deformations (feet and spine) and osteoporosis observed in RTT pose a serious medical problem. They may cause not only severe pain, but also make sitting
impossible, thus affecting lung ventilation and favouring infections. Approx. 50 % of
patients have epileptic attacks, sometimes difficult to manage and requiring hospitalisation. Intensity of convulsions and their frequency demonstrate a decreasing tendency after puberty. Neurophysiological studies suggest that pathogenesis of the disease is associated with both central nervous system and autonomic nervous system
disorders [29; 30]. EEG records reveal focal, multifocal and generalised changes with
theta waves, suggesting altered cortical stimulation of the brain. At the same time,
changes of the EEG record are not characteristic enough, to become a diagnostic basis
for RTT.
Despite increasing interest in RTT in the medical society, and a dynamic development of genetics, therapy of RTT patients is limited to alleviation of some symptoms.
No effective therapy has been developed that would be able to make the disease
milder. The therapy is limited to general developmental rehabilitation, occupational
therapy, speech therapy and social training.
Learning epigenetic and metabolic mechanisms through which the MeCP2 protein
controls expression of target cells seems important. That could constitute a starting
point for search for ways of limiting the negative effect of abnormal MeCP 2 function,
and thus for attempts of its improvement.
Cerebral hypoxia, prevented by the normally functioning Me CP2 protein, is one
of significant pathomechanisms, and fighting consequences of oxidative stress appoints a new direction of help.
We may hope that the dynamic development of genetics will open some options
of effective treatment of RTT patients, and will restore normal function of their nervous system.
ADHD
It is a group of disorders characterised by early onset (usually during the first five
years of life), deficit of persistence in realisation of tasks requiring cognitive engagement, a tendency to switch between actions without completing either of them, and a
disorganised, poorly controlled hyperactivity [31]. It is believed that ADHD occurs in
4-8% of early-school children (6–9 years of age), mostly boys, regardless their race
or cultural background. The prevalence decreases by 50% with each 5 years of age,
but 60% of adult patients manifest some or all signs of the syndrome (particularly
attention deficit).
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In her work on hyperactivity published in 1970s Virginia Douglas from Canada
formulated 4 signs of clinical ADHD presentation [32].
 difficulties with attention and efforts maintenance,
 impulsiveness,
 problems with stimulation level control,
 necessity for direct enhancement.
The motor sphere: clear restlessness within the scope of the gross and minor motor
skills, inability to stay motionless even for a short time, sudden standing up, pointless
walking, increased speed and frequent variability of movements (a sensation of being
in constant rush), compulsory waving hands, jumping, intensified fine movements of
extremities (kicking in the air, loud pattering, moving fingers, constant operating with
things within the person's reach, rocking on a chair, etc.), pointless running.
The cognitive sphere: difficulties with attention (labile attention, largely dependent on affective factors), no perseverance in case of lack of interest or direct benefit,
hastiness, significant fatigue in intellectual work with associated uneven productivity,
shallow thinking, switching attention from one object to another (incorrect, thoughtless responses to questions or incorrect solutions of tasks), in intelligence tests some
researchers indicate the level "below expectations", mostly in executive scores, visual-motor difficulties, troubles with synthesizing in thinking, lack of ability to plan.
Many children with attention deficit have some speech or language disorders, including: speech development delay, troubles with articulation, problems with the structure
of sentences, incorrect position of sounds, poor handwriting. Patients find also expressing thoughts in writing difficult
The emotional sphere: lack of self-control, episodic strong emotional reactions,
intensified expression of feelings, increased emotional susceptibility to stimuli from
the environment, outbursts of anger, impulsiveness
The therapy of ADHD is based on non-pharmacological methods. Pharmacotherapy is necessary in some cases. Non-pharmacological methods include: psychoeducation, psychotherapy, diet, biofeedback. They are basic methods and constitute the
first element in the therapy of ADHD. If the above mentioned methods fail, and intensified symptoms hinder normal functioning of a child, pharmacotherapy is attempted. However, drugs should be used along with psychotherapy and psychoeducation. Psychostimulating agents are the drugs of the first choice. In Poland the best
known and available drug belonging to that group is Methylphenidate. The agent
blocks noradrenalin and dopamine reuptake land increases release of those monoamines into the extraneuronal space. Side effects have to be closely monitored from the
very beginning of the therapy. The most common side effects are: appetite disorders
and associated body weight loss and growth arrest, arrhythmia, insomnia, ticks, lowering of the seizure threshold. Other psychostimulating agents are Dextroamphetamine, Amphetamine salt blend, Dextromethylophenidate. Also Pemolin - not an amphetamine derivative - is a psychostimulating agent. The best effect is achieved using
a combined therapy. Psychotherapy, education and pharmacotherapy increase efficacy of the therapy. Early introduction of therapy gives a chance for a change in a
child's behaviour.
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CONCLUSION
In each disorder mentioned above, an especially important role is played by patient's environment, particularly the closest family. Favourable conditions may increase the patient's chance for marriage, independence and education.
Recent studies indicate that both genetic and neurological factors play an important role in pathogenesis of autism. The only chance for affected children is early
diagnosis and introduction of an appropriate psychotherapy. Nevertheless, only few
people affected by autism are able to lead an independent life. The same problem is
connected with Rett Syndrome. We may hope that the dynamic development of genetics will open some options of effective treatment of RTT patients, and will restore
normal function of their nervous system.
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ABSTRACT
Autistic Disorder (AD) is classified by ICD-10 as pervasive developmental disorder. Regardless any other classifications, the term Autistic Spectrum Disorders (ASD)
is more and more commonly used, because of data from empirical studies, according
to which individual diseases classified as pervasive developmental disorders (PDD)
are not sufficiently separated or homogenous, and do not exclude existence of comorbidities. In this paper authors would like to analyse some most common problems
encountered by physicians dealing with selected ASDs.
STRESZCZENIE
Autyzm dziecięcy (AD) według ICD-10 należy do całościowych zaburzeń rozwojowych. Niezależnie od przyjętych klasyfikacji coraz częściej spotykamy się z określeniem zaburzenia ze spektrum autystycznego (ASD - Autistic Spectrum Disorders),
ze względu na dane pochodzące z badań empirycznych, zgodnie, z którymi poszczególne jednostki chorobowe, wchodzące w skład grupy całościowych zaburzeń rozwojowych nie są dobrze wyodrębnione czy jednorodne oraz nie wykluczają współwystępowania innych zaburzeń. W pracy, autorzy przeanalizowali problemy w wybranych
zespołach ze spectrum autystycznego, najczęściej spotykanych w praktyce lekarskiej.
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