Theme 9
Week 35
Random diseases
Rare?
Week 34
Hip
Developmental dysplasia
Rapid detection/treatment
Deformity, stiffness, dislocation, osteoarthritis
<2 weeks of life
Barlow test + Ortolani's test
1,5-2,0/1000 live births
Female sex, first born, high birth weight, breech, oligohydramnios
Positive family history
The older the child at diagnosis -> the more necessary surgery becomes + more residual deformity, stiffness, and later osteoarthritis
Closed reduction -> open reduction -> osteotomies
Septic arthritis
May be multifocal - septicaemia -> bacteria into the metaphyses of long bones -> neighboring joint
Aspiration + drainage -> antibiotics
Irritable hip
Discomfort, muscle spasm and limp disappear <7-10days
Physical examination, routine blood tests, ultrasound
Rest
Perthes' Disease (Legg-Calve-Perthes' Disease)
Idiopathic osteonecrosis of the proximal femoral epiphysis
Age 3-10
Male:female = 4:1
10-20% bilateral
8-12% positive family history
Similar to transcient
Sclerosis -> fracture line -> frangmentation -> healing -> reossification
Younger = better prognosis (<5yrs)
- Conservative approach 2. Surgical realignment or acetubular procedure 3. Reconstructive surgery
Bilateral = systemic (hypothyroidism, malnutrition, social deprivation)
Dysplasia or dislocation
Screening & public awareness
Symmetrical, waddling gait
Later discovered = worse prognosis
Acetabular realignment osteomies and sometimes proximal femoral procedures
Infection - septic arthritis, osteomyelitis
Acute dislocation, stiffness, deformitiy, leg shortening
Chronic arthritis - 3-4% children w/limp
- Reactive arthritis
- Hematological abnormalities
- Infiltrative or metabolic disorders
Team approach
Later in childhood/adolescence
Limp = changes in gait
- Trendelenburg (articular pathology w/inflammation, deformity or weakness)
- Limb discrepancy
- Antalgic = painful
Miscellaneous - fractures
- Intracapsular
- Extracapsular
Consequences - Avascular necrosis,
later deformity, osteoarthritis, growth arrest
Early recognition, reduction and internal fixation
Slipped upper femoral epiphysis
- Metabolic bone disease - mid-childhood
- Endocrinopathies
- Growth spurt - perichondrial ring is weak
Limp + knee pain
Early recognition prevents e.g. chondrolysis, avascular necrosis, osteoarthritis
Fixation and possibly prophylactic fixation other hip
Reactive synovitis - idiopathic osteoporosis, hemophilia, arthropathies, snapping hip syndrome, bursitis
Tumour - osteoid osteoma, osteochondromata, skeletal dysplasias, leukemia
Avascular necrosis
Primary (idiopathic) or secondary
- Steroid treatment or surgery -> iatrogenic avascular necrosis
- Post-fracture avascular necrosis
If the femoral head deforms – which is more likely when the infarcted area is extensive – movement of the hip will be lost progressively.
- Abduction, internal rotation and extension become limited
- More generalized stiffness supervenes
Realignment proximal femoral osteotomy with internal fixation or leg-length equalization.
Longer-term results are often disappointing bc of development of secondary OA.
Week 34
Spine & Neuromuscular conditions
Scoliosis
Idiopathic scoliosis
Congenital scoliosis
Neuromuscular scoliosis
Kyphosis & Lordosis
Back pain in children
Spondylolysis
Spondylolisthesis
Spinal infection
DISORDERS OF UPPER MOTOR NEURONE, SPINAL CORD, PERIPHERAL NERVES AND MUSCLE IN CHILDREN
SPINAL MUSCULAR ATROPHY
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
HEREDITARY MOTOR AND SENSORY NEUROPATHY (CHARCOT–MARIE–TOOTH DISEASE)
MYOTONIC DYSTROPHY
Spina Bifida
Cerebral Palsy
Charcot–Marie–Tooth disease
Increase in weight, but falling height percentile suggests hypothyroidism
Head circumference may be disproportionately large when there is familial megalocephaly, hydrocephalus, or merely catch-up growth in a neurologically normal premature infant
Microcephalic = when the head circumference is less than the third percentile, even if length and weight measurements also are proportionately low.
The growth pattern of a child with low weight, length, and head circumference is commonly associated with familial short stature
Children who live in psychological deprivation develop short stature with or without concomitant FTT or delayed puberty, a syndrome called psychosocial short stature.
- polyphagia, polydipsia, hoarding and stealing of food, gorging and vomiting, and other notable behaviors.
- Depressed and socially withdrawn + endocrine dysfunction
- Removal from adverse environment.
A child who, by age, is preadolescent or adolescent and who starts puberty later than others may have the normal variant called constitutional short stature
- Careful examination for abnormalities of pubertal development ~ primary amenorrhea?
First, high growth percentiles, then lower percentiles @ 6 and 18 months of age (matching genetic programming). Usually no decrease more than two major percentiles + normal developmental, behavioral, and physical examinations. These children with catch-down growth should be followed closely.
- SGA or prematurity
Observation of any asymmetric movement or altered muscle tone and function may indicate a significant central nervous system abnormality or a nerve palsy
- Moro reflex is elicited by allowing the infant’s head to gently move back suddenly -> a startle, abduction and upward movement of the arms followed by adduction and flexion. Flexion in the legs.
- Rooting reflex is elicited by touching the corner of the infant’s mouth -> lowering of the lower lip on the same side with tongue movement toward the stimulus. The face also turns toward the stimulus.
- Sucking reflex occurs with almost any object placed in the newborn’s mouth -> vigorous sucking (later voluntary).
- Asymmetric tonic neck reflex is elicited by placing the infant supine and turning the head to the side -> ipsilateral extension of the arm and the leg into a “fencing” position. The contralateral side flexes.
Physical examination should indicate whether the deformity is fixed or can be moved passively into the proper position (if so, high chance of it resolving with growth/development).
Evaluation of vision and ocular movements is important to prevent the serious outcome of strabismus.
- Cover test and light reflex
Important terms;
- Growth as the increase in size
- Development as an increase in function of processes related to body and mind
- Bonding occurs shortly after birth and reflects the feelings of the parents toward the newborn (unidirectional).
- Attachment involves reciprocal feelings between parent and infant and develops gradually over the first year.
- Early adolescence, attention is focused on the present and on the peer group. Concerns are primarily related to the body’s physical changes and normality.
- Middle adolescence - cognitive processes are more sophisticated. Through abstract thinking, middle they can experiment, consider, develop insight, and reflect on their own feelings and the feelings of others. As they mature, these adolescents focus on issues of identity. They explore their parents’ and culture’s values. The strivings of middle adolescents for independence, limit testing, and need for autonomy often distress their authority figures. These adolescents are at higher risk for morbidity and mortality from accidents, homicide, or suicide.
- Late adolescence usually is marked by formal operational thinking (future etc). Late adolescents are usually more committed. Unresolved separation anxiety from previous developmental stages may emerge.
- The four major methods of operant conditioning are positive reinforcement, negative reinforcement, extinction, and punishment.
- Failure to thrive (FTT) is a descriptive term given to infants and young children with malnourishment resulting in inadequate growth. Defined as; weight below the 3rd or 5th percentile for age; weight decreasing, crossing two major percentile lines on the growth chart over time; or weight less than 80% of the median weight for the height of the child.
Growth and development
- The American Academy of Pediatrics (AAP) recommends human milk as the sole source of nutrition for the first 6 months of life, with continued intake for the first year, and as long as desired thereafter.
- Stranger anxiety develops between 9 and 18 months of age, when infants normally become insecure about separation from the primary caregiver.
- Ages 2-3 years are a time of major accomplishments in fine motor skills, social skills, cognitive skills, and language skills. The dependency of infancy yields to developing independence and the “I can do it myself” age. Limit setting is essential to a balance of the child’s emerging independence.
There is a growing body of evidence that notes that children who are in high quality early learning environments are more prepared to succeed in school.
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FTT - malnutrition initially results in wasting (deficiency in weight gain). Stunting (deficiency in linear growth) generally occurs after months of malnutrition, and head circumference is spared except with chronic, severe malnutrition. FTT that is symmetric (proportional weight, height/length, and head circumference) suggests long-standing malnutrition, chromosomal abnormalities, congenital infection, or teratogenic exposures. Short stature with preserved weight suggests an endocrine etiology.
- Inadequate nutritional intake, malabsorption, increased metabolic demand
- Careful history and physical examination, developmental screening, complete psychosocial assessment of the child and family, complete neurological examination, Observation during feeding and home visitation -> guide the laboratory evaluation
- Nutritional management + psychosocial needs
- Children with FTT may suffer from a malnutrition-infection cycle, in which recurrent infections exacerbate malnutrition, leading to greater susceptibility to infection.
- Changes in serum electrolyte concentrations and the associated complications are collectively termed the re-feeding syndrome -> life-threatening cardiac, pulmonary, or neurological problems
Child abuse
Neglect is the most common form of child maltreatment and is broadly defined as omissions that prevent a child’s basic needs from being met.
- identification of both factors contributing to the neglect, as well as strengths that can be protective factors.
Physical abuse is second to neglect as the reason for child protective services reports and child maltreatment related fatality.
- History that seems incongruent with the clinical presentation of the child raises concern for physical abuse
- Approximately 10% of children hospitalized with burns are victims of abuse.
- Abdominal trauma is, therefore, the second leading cause of death from child physical abuse after head injury.
- Evaluation for occult injury as well as medical conditions that can mimic physical abuse.
Child sexual abuse is the involvement of children in sexual activities that they cannot understand, for which they are developmentally unprepared and thus cannot give consent.
- Sexual abuse is more common in girls than boys, although sexual abuse of boys is underrecognized and underreported.
- Disclosure, behavioral problems or accidental find.
- The diagnosis of most sexually transmitted infections in young children requires an investigation for sexual abuse
- Medical treatment for injuries and infections, and careful medical documentation of verbal statements and findings -> photographic documentation. Physicians should be aware of the potential long-term impacts of maltreatment on child health. Trauma-focused cognitive-behavioral therapy? Police?
Breast feeding jaundice or breast milk jaundice
Breast tenderness, engorgement, and cracked nipples are the most common problems encountered by breast feeding mothers.
If a lactating woman reports fever, chills, and malaise, mastitis should be considered. -> untreated, breast abscess
- Pace and localization
- Progressive, static (cerebral palsy), or episodic
- Sudden (seizures, stroke), acute min/hours (epidural hemorrhage), subacute days/weeks (brain tumor) or over years (hereditary neuropathies)
- Intermittent attacks of recurrent, stereotyped episodes (migraine, epilepsy)
- Episodic disorders - periods of symptoms, followed by partial or complete recovery (demyelinating, autoimmune, vascular diseases)
- Loss of skills over time (regression)
- Alertness, responsiveness, language skills
Observation of the child’s appearance, movement, and behavior
Brain & skin
Head circumference, fontanelle
Ocular examination
Examination of the hands and feet
neurological examination, reflexes
Mental status and developmental examinations assess cerebral cortex function.
The cranial nerve examination evaluates the integrity of the brainstem.
The motor examination evaluates upper and lower motor neuron function.
The sensory examination assesses the peripheral sensory receptors and their central reflections.
Deep tendon reflexes assess upper and lower motor connections.
Duchenne muscular dystrophy (DMD)
- Xp21; mutation in the dystrophin gene
- Most common muscular dystrophy; approximately 1 in 3,500 boys is affected
- Awkward waddling gait and an inability to run properly
- Delay in attaining motor milestones, poor head control, Gowers sign
- Risk for cardiomyopathy, scoliosis, respiratory decline, and variable cognitive and behavioral dysfunction
- Serum CK levels increased + genetic testing (⅓ sporadic)
- Chronic oral steroid therapy + supportive treatment + exon-skipping medications
Becker muscular dystrophy
- Dystrophin gene → more mild symptoms - semi functional protein
Disorders of neuronal migration
Failure of normal migration of neurons
Multiple malformations may coexist
Neurologic development - type and extent
Treatment-resistant epilepsy
Schizencephaly; clefts within the cerebral hemispheres that extend from the cortical surface to the ventricular cavity → focal epilepsy
Lissencephaly; defect in cortical migration
- Smooth brain without sulcation (agyria)
- Difficult-to-control seizures and profound developmental delay
- Genetic disorder, X linked or de novo ( LIS1 mutations)
- Pachygyria; the gyri are few in number and too broad
- Polymicrogyria; the gyri are too many and too small
Weakness
Weakness is a decreased ability to voluntarily and actively move muscles.
Hypotonia
Hypotonia is a state of low muscle resistance to movement. Hypotonia can be associated with weakness, but in some cases is present with normal motor strength.
Upper motor neurons or lower motor neurons
Dysfunction of the upper motor neuron causes loss of voluntary control, but not total loss of movement
Week 33
Social Medicine
- Access to care for all
- Affordability of care through health insurance that is compulsory and accessible to all
- Good quality of care\
WPG, ZWV, WLZ, WMO, youth act
- Curative care; ZWV
- Long-term care; WLZ
- Supplementary care; separate insurance
- Preventative care; WPG
Healthcare, funding, financing, management of care
- VWS, NZa, ZiN, KNMG, LHV, government, regulators, executive bodies, advisory bodies, knowledge institutes and health funds.
Appendicitis
"Vermiform appendix'
10% population at one point
- Obstruction - fecalith 'poop rock', undigested seeds, pinworm infection, lympoid hyperplasia
Mucus is still produced and will build up - swelling
AAAQ model
Availability
Accessibility (non-discrimination, physical, economic and information)
Acceptability
Quality
Public Health Foresight Studies (VTV)
- Health in the social and physical environment;
- Reducing health disadvantages
- Pressure in daily life on young people and young adults
- Healthy aging
National priorities, local priorities, future public health situation
Which requires integrated health policy (with intersectoral health policy/Health in All Policies (HiAP))
Week 34
Anatomy
Week 36
ADHD & ASD
Prevention (pyramid structure)
- The pyramid base consists of measures aimed at the entire population;
- The second level includes preventative care for groups at increased risk;
- The top of the pyramid is care for those at risk and individuals with specific health problems.
Life course approach
Health can be influenced by determinants earlier in life (also across generations).
- Healthy birth;
- Growing up healthily: foundation is laid for physical and mental health. Development in motor and language skills. Socioeconomic status, education and participation have influence. Hormonal development and the not yet fully developed prefrontal cortex during adolescence. Development of identities, resilience and flexibility. Organizations like 'Kansrijke Start' and 'Nu Niet Zwanger' hook into this category, but also preconception care plays a role.
- Staying healthy: responsibilities, independence and starting work. Stress, overload, mental disorders which can in the end lead to physical conditions.
- Healthy aging: Preventing, delaying and treating one or more (chronic) disorders/diseases. The importance of lifestyle factors, self-reliance, functioning, participation and quality of life. Vulnerability causes loss of independence and staying in control becomes more important. Vulnerability manifests in different ways like; (1) Physical, (2) Cognitive, (3) Social, (4) Psychological.
Lifestyle is determined by a complexity of factors, including factors that can be observed in the person (physical, psychological, behavioral) and factors in the person's environment (social, economic, political, cultural). Lifestyle interventions can be used as treatment and can reduce the use of medicines, however take these influences into consideration.
- Alcohol use
- Physical exercise
- Smoking
- Diet
What would be the three main reasons to change your lifestyle?
How important is it for you to change your lifestyle, and why?
Are you satisfied with your lifestyle? Do you think changing it would reduce your health risks or make life more pleasant?
Did you make any previous attempts to change your lifestyle and if so, which obstacles did you encounter?
Provide information if the patient agrees
Formulate goals with the patient - how confident are they to succeed?
Terms of movement
Dorsiflexion vs plantarflexion
Circumduction
Flexion vs extension
Abduction vs adduction
Medial rotation vs lateral rotation
Pronation (eversion; ankle leans inward) vs supination (inversion; ankle leans outward)
Pelvis and perineum
Greater/false pelvis; lower portion of the abdomen that lies between the flared iliac crests
Lesser/true pelvis; demarcated by the pelvic brim, sacrum, and coccyx
Pelvic inlet; circular opening where the lower abdominal cavity is continuous with the pelvic cavity and is the upper border of the lesser pelvis
Pelvic outlet; diamond-shaped and bounded by the pubis symphysis anteriorly, the pubic arches, the inferior pubic rami and ischial rami, the sacrotuberous ligament, and the coccyx. It is the lower border of the lesser pelvis.
Autism Spectrum Disorder
Deviant behavior with limitations in the area of communication and interaction. One sees often limited or repeated behavioral patterns interests or activities. May be hidden because of acquired skills which compensate.
ADHD
When individuals suffer from attention disorders, impulsivity, and hyperactivity in combination with some functional barriers, certain risk factors, abnormal neuropsychological function, and other neurobiological features.
Inattention
Hyperactivity
And/or impulsivity
The surroundings, motivation and kind of task might influence the manifestation of symptoms.
Easier to diagnose in growing adolescents.
Possible additional psychological complaints.
- 15% persistence for adolescents with the full syndrome
- 40-60% partial persistence
- Severe form + combined form of ADHD -> higher risk of persistence of the symptoms
Most common mental disorder in children (5% under 18yrs)
Boys>girls
More often in developed countries (perception towards ADHD between cultures)
Strong genetic component (76%), but still multifactorial in nature (prematurity, intrauterine exposure to tobacco, low birth weight, nutritional deficiencies, environmental toxins, and psychological factors)
- Frontal-striatal dysfunction -> defect in performing functions + lack of inhibitory control.
- Mutation in the genes encoding for GABA and catecholamines might lead to ADHD.
- Cortex of children with ADHD develops later than in the control group - mainly in the attention region of the brain (lateral prefrontal cortex).
Teachers can compare children among each other -> refer the child
Based on clinical presentation
DSM-5 or ICD-11
Symptoms >6 months
Check with >1 person, because of environmental influences on the behavior + prevent subjective interpretation
Ask about medical history, development, relationships, presence of other mental disorders in the child, evaluate situation at home
Additional examinations if other disorders are suspected.
Rating scales to check effectiveness of therapy.
DSM-5
- Predominantly inattentive
- Predominantly hyperactive/impulsive
- Combined
ICD-11
6A05 Attention deficit hyperactivity disorder (ADHD)
“Persistent pattern (at least 6 months) of inattention and/or hyperactivity-impulsivity that that is outside the limits of normal variation expected for age and level of intellectual development and has a direct negative impact on academic, occupational or social functioning. Symptoms vary according to chronological age and disorder severity.”
- Predominantly inattentive
- Predominantly hyperactive-impulsive
- Combined
Symptoms
Infants/toddlers: playing for a short time, not listening, not finishing activities --> chaotic 'whirlwind' --> no sense of danger
Elementary school age: forgetfulness, short activities + quickly switching --> restless --> interupting others, breaking rules
Adolescence: diminished focus on details, shorter attention span, difficulty planning --> impatient --> reckless behavior, little control
Adulthood: forgetting appointments, not able to anticipate details --> subjective --> vehicle accidents, impatient, making bad choices.
Treatment
At home, in social situations and at school
Set a treatment goal, what disturbs daily life the most?
Treatment plan should be formulated (individual, revised + adjusted)
Pharmacotherapy + behavioral interventions
Psychoeducation
- Ensuring the patient and the family understand what ADHD is;
- Enhancing therapeutic compliance by involving the patient and the parents in the treatment plan and making sure they understand the advantages and risks of certain drugs;
- Identification of barriers to the treatment.
Behavioral therapy
Identify problematic behavior - preceding factors/eliciting factors
Detailed plan on how to tackle
Less effective than pharmaceutical treatment
Neurofeedback
Train patients to improve their self-control over brain activity patterns (EEG) while focussing
Computerised Cognitive Training (CCT)
Enhancing accomplishments in neuropsychological functions ass. with ADHD (e.g. attention). However, has no effect on core symptoms.
Gamified, engaging, cognitive exercises from their own computers or mobile devices anytime anywhere
Targeted to improve overall cognition or specific domains (such as learning and memory, attention, speed, executive functioning), as well as daily living skills such as financial knowledge or driving performance.
They can potentially be adjusted and adherence supervised remotely.
Diet
Excluding artificial additives
Poly-saturated fatty acid supplements
Pharmacotherapy
Stimulants
- Methylphenidate (Ritalin; first choice)
- Dexmethilphenidate
- Dextroamphetamine
- Mixed amphetamine salts.
Long-acting medications are more expensive.
Side effects: insomnia, headache, agitation, irritability, nervousness, tremor, anorexia, nausea, weight loss
Ritalin can be stopped in summer to prevent growth retardation. It can cause sudden cardiac death in individuals with structural heart defects.
All stimulants have potential for abuse. Esp. in people with comorbid behavioral problems or disorders
Non-stimulants
Second line treatment (intolerance, contraindications, failure of 1st line treatment)
- Atomoxetine (SNRI; secondary increase in dopamine levels. Good option if there are comorbid anxiety disorders)
- Extended-release guanfacine or sustained release clonidine (alpha-2 agonists; used if there are comorbid tics or Gilles de la Tourette syndrome)
Guideline
Predominantly - inattentive presentation - dreamy, passive withdrawn, disorganized/forgetful, and easily distracted
Predominantly hyperactive/impulsive presentation - easily distracted, having difficulty sitting still or waiting their turn, hurrying, loud-players, ramblers, having difficulty listening, having difficulty following instructions, having extreme reactions, losing objects, having difficulty focusing, and often being in dangerous situations.
- Phase 1 (preliminary phase): initial suspicion -> parents should be consulted
- Phase 2 (the identification phase with generic instruments): physical examination, screening questionnaires (SDQ), consults GP/teachers + analyses history & behavior
- Phase 3 (the identification phase with specific instruments): ADHD questionnaire (AVL)
- Phase 4 (the diagnosis): peadiatrician, GP or youth mental care provider
- Phase 5 (treatment & follow-up): education, medication and/or therapy (individual & family)
!!
ADHD will not disappear
Learn ways to deal with it/control it
Siblings may also have ADHD
Importance of environmental factors, structure, rules
Moving, exercising, rewarding good behavior
Positive self-image of the child
Criteria
- Limitations in social communication and itneraction, present in multiple contexts;
- Restricted or repetitive behavioral patterns, interests, or activities;
- Significantly restricted functioning;
- Characteristics present from early childhood;
- No other explanations for the deviant behavior.
Level 1: some form of support is required
Level 2: Substantial support is required
Level 3: Intensive support is required
Epidemiology
Global prevalence is around 1%
Better recognition -> increased prevalence
Boys > girls - 5:1
Early recognition -> better prognosis + early treatment + offer certainty
Increased risk if 1st degree family also has ASD
6 months: problems w/social interaction
2 years: difficulties social interaction, playing, language, and cognitive, sensory and motor development.
Impact on parents/guardians - phases
- Parental intuition to diagnosis; uncertainty
- Diagnosis to acceptance;
- Acceptance to future perspective;
- Raising/taking care of the child without help to accepting help (at ease)
Red flags
General developmental disorder
- Not pointing towards things;
- Playing with few different toys;
- Not responding to signals form the surrounding;
- Limited use of consonants.
Specific to ASD
- Limited non-verbal communication;
- Not sharing interests or enjoyment;
- Repetitive movements (with objects);
- Not responding to own name;
- Not showing warm expressions;
- Deviant emphasis and intonation;
- An 'empty' gaze.
Osgood Schlatter’s condition
Screening; M-CHAT (modified checklist for autism in toddlers) and CAST (childhood autism spectrum disorders test).
Watch out for false positives & negatives
Behavioral therapy does not work equally well for every child.
Etiology: Genetic factors + multiple etiological factors are involved.
- Large brain volume (both white & gray matter)
- Enlarged ventricles
- Deviant biochemistry in the brain
- Deviant conduction in the brain
- Abnormal parts of the cortex (patches) are found in other areas of the brain
Abnormal neuronal development - rapid growth of the brain in the first 2 yrs of life + formation of odd connections.
Environmental factors; vitamin D deficiencies + exposure to e.g. mercury and cadmium
Risk factors
- Siblings with autism/ASD;
- Parental history of psychosis, an affective disorder, or another mental/behavioral disorder;
- Maternal and paternal age over 40yrs
- Male gender;
- Prematurity;
- Threatened abortion under 20 weeks
- Birth weight <2500gr
Symptoms
Limited social interaction and communication
Difficulty looking into another person's face/eyes to read behavioral information
Less capable of following another person's gaze
"Joint attention" is lacking
Limited capability to apply the theory of mind - to put one in another's shoes and imagine their mental state.(needed for empathy, to share, and build relationships).
High degree of selectivity - one focus & loss of overview
Limited in the ability to start or maintain a conversation.
Language ability develops slowly or not at all.
Little spontaneity and fantasy
No use of other communication methods to compensate
Repetition of words (papegaaien/parroting/echolalia)
Sticking to specific patterns and activities; repeated sensomotoric activities (stimming) & limited interest
Profound interest in a certain subject.
Difficulty to be flexible + to socialize.
Diagnosis
Multidisciplinary team
NICE guidelines
Main aspects of ASD
Recommendations
diagnostic tools
How to discuss with parents
Examination
- Intellect and studying abilities;
- Academic skills;
- Speech and communication skills;
- Fine and gross motor skills;
- Adaptability;
- General health (also mental);
- Sensory hyper- or hyposensitivity;
- Behavior that has an impact on further life.
DDx
- Deafness
- Severe psychosocial shortcoming
- Cognitive impairment
- Rett syndrome
- Receptive-expressive language disorder
- Landau-Kleffner syndrome
- Selective mutism and abandonment anxiety
Older children
- Schizophrenia
- ADHD
- OCD
Prognosis
Serious cognitive impairment might influence the rest of their lives
Social problems often remain
Behavioral skills tend to improve with age
Rett syndrome
Development of the child stagnates; with firm gestures and poor social development. It is not included in the ASD spectrum as it is only present during a short period of development. It is an X-linked condition that almost only affects girls.
Landau-Kleffner syndrome
Congenital aphasia with epilepsy, and it is accompanied by a normal development until the age of 3, followed by a massive regression of language.
Arteries of the lower limb
Abdominal aorta --> left and right common iliac artery --> external iliac --> femoral artery --> deep femoral artery --> popliteal artery--> posterior tibial artery --> small fibular artery --> medial and lateral plantar artery
Treatment
Personalized, contextualized, and empowering
Involve the family + ask what support they would like to receive.
No cure for an autistic disorder
Behavioral changes work very well.
Risperidone - for severe irritation or difficult behavior
Focus on education, support, and access to all psychological and medical treatment options.
Medical treatment for comorbidities and challenging behavior
Nerves:
anterior thigh: femoral nerve
medial thigh: obturator nerve
Posterior thigh: sciatic nerve
Tibial nerve: part of the sciatic nerve: innervates
posterior leg and plantar foot
fibular nerve: innervates the lateral leg
Guidelines
Recognition + screening
- Lack of smiling, reacting, chatting, waving, and language skills
0-4yrs - CoSoS/ESAT in case of a suspected ASD
early screening (14 questions)
4+ yrs old - list of ASD warning signs is consulted. Positive result -> ASD-specific screening tool (SCQ or ASV)
Always examine medical history to look for potential causes.
Screening positive -> refer for diagnositcs and treatment.