Human development Flashcards
(135 cards)
1
Q
Maturationist view of development (essence)
A
Genes pre-programme our development (e.g. motor skills). The role of the environment is to passively support this.
2
Q
Behaviourist view of development (essence)
A
All behaviour is learnt from the environment as we develop. Genetic contribution to development is minimal.
3
Q
Gene-environment correlation (essence)
A
The effects of genes and environment on development are not independent of each other.
i.e. genetic predispositions may only translate into a trait or characteristic in a particular environment. Conversely, an environment (e.g. stress) may overpower protective genetic factors.
4
Q
Intelligence (genetic contribution)
A
Twin studies show a higher correlation between the IQ of MZ twins than DZ twins.
Adoption studies show a higher correlation between child and biological mother IQ compared with child and adoptive mother IQ.
5
Q
Flynn effect
A
There has been a population level increase in IQ scores across generations across the globe over the last century.
i.e. When a new IQ test is taken by a sample group, their average score is set to 100. When sample groups have taken older tests. their average scores have consistently been above 100.
6
Q
Forms of intelligence (2)
A
Fluid intelligence - problem solving
Crystallised intelligence - learnt material and concepts
7
Q
Stage theory of development
A
A stage is a time period in development characterised by a unique set of behavioural patterns and capacities.
Stage theorists hold that individuals may vary according to the time they reach each stage, however, once reached, every individual shows a similar pattern of development.
8
Q
Freudian psychoanalytic model of development (essence)
A
Every child develops three internal forces over the process of maturation: id, ego, superego.
9
Q
Id (concern)
A
Immediate gratification of needs
10
Q
Ego (concern)
A
Awareness of consequences
Helps to meet the desires of the id in a socially acceptable manner. This may mean delaying the gratification desired by the id.
11
Q
Superego (concern; when does it develop?)
A
Internalising the values and morals of one’s society (learnt mainly from surrounding adults)
Develops last - during the Latency Stage of Psychosexual development
12
Q
Two systems that operate within the superego
A
- The ideal self
- a mental picture about how you ought to be or how you would like to be - The conscience
- the part that punishes the ego for giving in to the id’s impulsive desires. The punishment is mediated by the resultant feeling of guilt.
13
Q
Freud’s stages of psychosexual development (5, +ages)
A
Oral (0-1) Anal (1-3) Phallic (3-6) - Oedipus complex, castration phobia - Electra complex Latency (6-puberty) Genital (puberty and onwards)
14
Q
Piaget’s theory of cognitive development (4, +ages)
A
Sensorimotor (0-2)
Preoperational (2-7)
Concrete operational (7-11)
Formal operational (11+)
15
Q
Which stage of development? (+ age)
- Uses movements and sensations to learn
- Development of object permanence - children learn that objects continue to exist even when they are out of their sight
A
Sensorimotor stage (0-2yrs)
Piaget’s cognitive developmental theory
16
Q
Which stage of development? (+ age)
Thinking is characterised by
- Egocentricism
- Inability to conserve
- Phenomenalistic causality
- Animistic thinking
- Semiotic function
Actions:
- Deferred imitation
- Symbolic play
- Graphic imagery (drawing)
A
Preoperational (2-7yrs)
Piaget’s cognitive developmental theory
17
Q
Which stage of development? (+ age)
- Child can conserve (mass (age 7) and weight (age 9))
- Child can see things from other people’s point of view (less egocentric)
- Can work out complex and logical mathematical rules, provided they concern concrete objects
- They cannot undertake more abstract problem-solving
A
Concrete operational (7-11yrs)
Piaget’s cognitive developmental theory
18
Q
Which stage of development? (+ age)
- Abstract thinking - children can manipulate ideas based on verbal statements rather than needing to see concrete evidence to problem-solve
- Hypotheticodeductive thinking - the highest organisation of cognition, enables a person to make a hypothesis or proposition and to test it against reality. Deductive reasoning moves from the general to the particular and is a more complicated process than inductive reasoning, which moves from the particular to the general.
A
Formal operational (11+)
NB: some adults never attain this phase
(Piaget’s cognitive developmental theory)
19
Q
Erikson’s Psychosocial development (Stages 1-4, +ages)
A
Trust vs mistrust (0-1)
Autonomy vs shame (1-3)
Initiative vs guilt (3-5)
Industry vs inferiority (5-12)
20
Q
Erikson’s Psychosocial development (Stages 5-8, +ages)
A
Identity vs role confusion (12-19)
Intimacy vs isolation (19-35)
Generativity vs stagnation (35-65)
Integrity vs despair (65+)
21
Q
Trust vs mistrust, 0-1yrs (basic virtue)
A
Hope
22
Q
Autonomy vs shame, 1-3yrs (basic virtue)
A
Will
23
Q
Initiative vs guilt, 3-5yrs (basic virtue)
A
Purpose
24
Q
Industry vs. inferiority, 5-12 years (basic virtue)
A
Competence
25
Identity vs. role confusion, 12-19 years (basic virtue)
Fidelity
26
Intimacy vs. isolation, 19-35 years (basic virtue)
Love
27
Generativity vs. stagnation, 35-65 years (basic virtue)
Care
28
Integrity vs. despair, 65 and onwards, (basic virtue)
Wisdom
29
Attachment (definition)
An emotional bond to another individual.
'lasting psychological connectedness between human beings' (Bowlby, 1969)
30
Attachment theory (key tenets)
An infant needs to develop a relationship with at least one primary caregiver for social and emotional development to occur normally.
The primary caregiver must be available and responsive to the infant's needs in order for the child to develop a sense of security.
This gives the infant a secure base from which they can gradually go out and explore the world.
31
Donald Winnicott (2 key concepts in attachment theory)
The good-enough mother
| The concept of holding
32
Stages of attachment development, Schaffer and Emerson (4,+ages)
Pre-attachment (birth - 3 months)
Discriminate attachment (6 weeks - 6 months)
Clear-cut attachment (6 - 11 months)
Multiple attachments - (starting from 9 months)
33
The Strange Situation Assessment
- theorist
- age-range
- description
Mary Ainsworth (1970)
designed for children between 12 and 18 months
Seven 3-minute episodes:
1. Parent and child alone in room
2. Stranger joins
3. Parent leaves
4. Parent returns, stranger leaves
5. Parent leaves (child alone)
6. Stranger returns
7. Parent returns
4 behaviour categories are observed:
1. Separation anxiety
2. Child's ability to explore
3. Stranger anxiety
4. Reunion behaviour
34
Mary Ainsworth attachment styles (3+1; prevalences)
Secure (70%)
Anxious-ambivalent, aka resistant (15%)
Anxious-avoidant (15%)
'Disorganised' attachment was later described
35
```
Secure attachment
(separation anxiety, stranger anxiety, reunion behaviour, other)
```
- Distressed when mother leaves
- Avoids stranger when alone but friendly if mother present
- Positive and happy when mother returns
- Uses parent as safe base to explore environment
36
Ambivalent (resistant) attachment
| separation anxiety, stranger anxiety, reunion behaviour, other
- Intense distress went mother leaves
- Avoids stranger and shows fear
- Approaches mother but resists contact, may even push her away
- Cries more and explores less than the other 2 types
37
```
Avoidant attachment
(separation anxiety, stranger anxiety, reunion behaviour, other)
```
- No distress when mother leaves
- Fine with strangers and plays normally in their presence
- Ignores mother when she returns
- Mother and stranger able to comfort infant equally well
38
Disorganised attachment (characterisation)
- Undisguised demonstrations of fear
- Behaving or becoming affected by something in a contradictory way
- Stereotypic, asymmetric, misdirected, or jerky movements
- Becoming frozen and seemingly disorientated with surroundings
39
Internal workings model of social relationships, Bowlby (characterisation)
Repeated experiences with caregivers lead to a system of cognitions, memories, beliefs, expectations, feelings and actions about the self, others and the world.
A child, and later an adult, will attempt to have relational experiences that tally with their expectations.
40
Adult attachment interview, Mary Main (4 forms of adult attachment)
Autonomous
Preoccupied (entangled)
Dismissing
Unresolved/disorganised
41
Parenting style (definition)
A psychological construct that represents the attitudes parents have towards child rearing and other things such as education, work, or gender roles.
Different from parenting practices, which refers to specific behaviours that parents employ to bring up children.
42
Parenting styles, Baumrind (4)
Authoritarian
Authoritative
Indulgent (aka Permissive)
Uninvolved
43
Which parenting style?
Demanding but not responsive
This style is characterised by strict rules and punishment if the rules are not adhered to. Explanations behind the rules are often lacking. These parents are focussed on status and obedience.
Generally leads to children who are obedient and proficient, but who rank lower in happiness, social competence and self-esteem.
Authoritarian
44
Which parenting style?
Demanding and responsive
Parents tend to be more responsive to their children than authoritarian parents. There are strict rules but explanations behind them are given. When children fail to meet expectations they are nurtured rather than punished. The focus here is on setting standards but also being supportive.
Tends to result in children who are happy, capable and successful.
Authoritative
45
Which parenting style?
Responsive but not demanding
These parents rarely discipline their children. They avoid confrontation and allow their children to self regulate. They prefer to take the role of a friend rather than a disciplinarian.
Often results in children who rank low in happiness and self-regulation. These children are more likely to experience problems with authority and tend to perform poorly in school.
Indulgent (Permissive)
46
Which parenting style?
Neither demanding nor responsive
This style of parenting is characterised by little involvement and few demands.
These children tend to lack self-control, have low self-esteem and are less competent than their peers.
Uninvolved
47
Margaret Mahler - Separation-Individuation Theory of Child Development (3, +ages)
Describes the development in young children of a sense of identity separate from their mothers.
I - Autistic phase
Takes place during first few weeks of life. Child is cut off, spends most of time sleeping
II - Symbiotic phase
This lasts until around 6 months of age, the child considers themselves and the mother to be a single unit and has no sense of themselves as an individual
```
III - Separation-individuation phase
During this phase the child learns to be an individual. This phase is split up into the 4 sub phases;
- differentiation,
- practicing,
- rapprochement,
- object constancy
```
48
Separation-Individuation phase (Mahler) - 4 sub-phases (+age)
Differentiation (5-10 months)
- slowly appreciates the difference between mother and self
Practicing (10-18 months)
- practices exploration; a gradual increase in interest in the environment
Rapprochement (18-24 months)
- alternating drives to be autonomous and dependent; able to explore alone but requires comfort and reassurance on return
- The toddler becomes acutely aware of his separation from the mother. concerned with mother's whereabouts and demonstrates his anxiety through active approach behavior (rapprochement).
```
Object constancy (2-5 yrs)
- understands that the mother will not be lost if temporarily away; hence able to function independently
```
'DPRO'
49
Temperament (definition)
The innate qualities of an individual's personality; the basic style with which a baby responds to the environment
50
Key study of temperament carried out by Alexander Thomas and Stella Chess
New York Longitudinal Study
Identified 9 behavioural traits which provide an overall description of a child's temperament:
1. Rhythmicity
2. Activity level
3. Approach/withdrawal
4. Adaptability
5. Threshold for responsiveness
6. Intensity of reactions
7. Quality of mood
8. Distractibility
9. Attention span
51
Temperament - types (3, +prevalence)
| Thomas and Chess
Easy (40%)
- a child who is positive in mood, has regular biorhythms, is adaptable, has a low intensity of emotions and a positive approach to novelty
Difficult (10%)
- a child who has overall negative mood, irregular biorhythms, is slow to adapt, has a high intensity of emotions and a negative response to novelty
Slow to warm up (15%)
- a child whose reactions tend to be less intense and extreme and who adapts gradually
52
Goodness of fit (theorist, essence)
Concept developed by Thomas and Chess.
Refers to the fit between parental expectations and a child's individual temperament.
53
Egocentricism (essence & age)
Concept in Piaget's theory of cognitive development
Before the age of ~7, children only see the world from their own perspective
e.g. when shown a model of the mountains with a doll next to it, they cannot identify the perspective from which the doll would see the mountains
54
Conservation (essence)
Concept in Piaget's theory of cognitive development
The ability to appreciate that a quantity (e.g. a volume of liquid) remains the same despite a change in appearance
55
Schema (Piaget - essence)
Concept in Piaget's theory of cognitive development
a category or 'basic unit' of knowledge. The child organises this knowledge into rules.
e.g. 'all four legged animals are cats'
56
Assimilation and Accommodation (Piaget - essence)
Assimilation - the generalisation of a schema to other things / the process of taking new information into an existing schema (without restructuring the schema)
Accomodation - altering a schema in view of additional information
e.g. a child might think that 'all four legged animals are cats' (schema). They then refer to a dog as a cat (assimilation), but later learn that 'not all four legged animals are cats' (accomodation)
57
Theory of mind (definition)
the ability to attribute mental states — beliefs, intents, desires, emotions, knowledge, etc. — to oneself, and to others, and to understand that others have beliefs, desires, intentions, and perspectives that are different from one's own.
58
By what age does a child usually develop theory of mind?
4 y/o
59
Tests for theory of mind (2)
False belief task
| Sally Anne Test
60
Stranger anxiety (age)
Starts around 6-8 months, peaking at 12 months
61
Separation anxiety (age)
Most common when an infant is 10 - 18 months and usually diminishes by 3 years.
62
Harlow's monkeys
The importance of the need for closeness over food was demonstrated in an experiment by Harlow known as 'Harlow's monkeys'.
Harlow's experiment involved giving young rhesus monkeys a choice between two different 'mothers.' One was made of soft terrycloth, but provided no food. The other was made of wire, but provided food from an attached baby bottle.
Harlow removed young monkeys from their natural mothers a few hours after birth and left them to be 'raised' by these mother surrogates. The experiment demonstrated that the baby monkeys spent significantly more time with their cloth mother than with their wire mother.
63
Adaptation (Piaget) - definition and processes (2)
The process of fitting schemas to environmental information.
This can happen either as:
- assimilation
- accommodation
64
Equilibration (Piaget) - definition
The state achieved (through adaptation) when all information properly fits into one's schemas.
During each developmental stage, the child will experience cognitive disequilibrium, which, through further adaptation, gets solved and equilibration results.
65
Object permanence (definition and age)
Understanding that objects that disappear from the field of perception have not ceased to exist.
Preliminary signs are shown at 9-12 months; fully attained by 18 months
66
Circular reaction (definition)
a behaviour that produces an event (thumb brushes mouth, kicking moves a rattle) that leads to repetition of the behaviour.
Primary circular reactions involve only the infants own body.
Secondary circular reactions are like primary, only the behavior involves external objects (e.g. shaking a rattle).
Tertiary circular reactions involve experiments with the different kinds of effects the same behavior can have (e.g. bouncing a ball down stairs then bouncing lots of other things down stairs).
67
Use of inborn reflexes (grasping, sucking, and looking) to interact with and accommodate the external world.
(Stage and Age of Piaget's Cognitive Development)
Sensorimotor, birth-2 months
68
Primary circular reactions. Co-ordinates activities of own body and senses (thumb sucking). Reality remains subjective (does not seek stimuli outside of visual field. Displays curiosity.
(Stage and Age of Piaget's Cognitive Development)
Sensorimotor, 2-5 months
69
Secondary circular reactions. Seeks out new stimuli in the environment. Starts to anticipate consequences of own behaviour and to act purposefully to change the environment. Beginning of intentional behaviour.
(Stage and Age of Piaget's Cognitive Development)
Sensorimotor, 5-9 months
70
Shows preliminary signs of object permanence. Has vague concept that objects exist apart from itself. Plays peek-a-boo.
(Stage and Age of Piaget's Cognitive Development)
Sensorimotor, 9-12 months
71
Tertiary circular reactions. Seeks out new behaviours and produces novel behaviours.
(Stage and Age of Piaget's Cognitive Development)
Sensorimotor, 12-18 months
72
Symbolic thought. Uses symbolic representations of events and objects. Shows signs of reasoning (uses one toy to reach for and get another). Attains object permanence.
(Stage and Age of Piaget's Cognitive Development)
Sensorimotor, 18-24 months
73
Phenomenalistic causality (characterisation & stage of cognitive development)
Causality is inferred if two events occur with some temporal association
e.g. lightning and rain come together, so lighting causes rain
Seen at the preoperational stage, 2-7yrs (Piaget)
74
Animistic thinking (characterisation & stage of cognitive development)
the tendency to ascribe life to inanimate objects
Seen at the preoperational stage, 2-7yrs (Piaget)
75
Semiotic function (characterisation & stage of cognitive development)
the ability to represent something such as an object, an event, or a conceptual scheme with a signifier (symbol). That is, children use a symbol or sign to stand for something else.
e.g. a 4-year-old child draws a tall matchstick figure representing her dad, and a short matchstick figure representing herself walking beside him.
Seen at the preoperational stage, 2-7yrs (Piaget)
76
Components of language (4)
Phonology
Syntax
Semantics
Pragmatics
77
Phoneme (definition)
'basic speech sound'
one of the units of sound that distinguish one word from another in a particular language.
78
Morpheme (definition)
the smallest meaningful unit in a language
------------------
A morpheme is not identical to a word, and the principal difference between the two is that a morpheme may or may not stand alone, whereas a word, by definition, is freestanding.
e.g. the -s in 'cats' to indicate plurality
79
Syntax (definition)
the set of rules, principles, and processes that govern the structure of sentences in a given language
80
Pragmatics (definition)
a subfield of linguistics and semiotics that studies the ways in which context contributes to meaning.
81
Language development (age range):
Reacts to loud noises, vocalises pleasure and displeasure (laughs, cries)
0-6 months
82
Language development (age range):
Responds to own name, responds appropriately to angry and friendly tones, babbles
6-12 months
83
Language development (age range):
Uses one or more word with meaning, understands simple instructions, tries to imitate simple words
12-18 months
84
Language development (age range):
Has a vocabulary of 5-20 words (mainly nouns), knows simple body parts, understands simple verbs (eat, sleep), starts to combine words (e.g. More play)
18-24 months
85
Language development (age range):
Able to name a number of objects, vocabulary of 150-300 words, able to combine words into short sentences, begins to use prepositions, answers simple questions
24-36 months
86
Language development (age range):
Has a vocabulary of 900-1000 words, begins to use plurals and past tense, handles three word sentences easily, groups objects such (e.g. Food, animals), strangers will understand most of what is said
36-48 months
87
Risk factors are associated with delayed speech and language (8)
```
Family history
Male gender
Twins
Lower maternal education
Childhood illness
Being born late in the family order
Young mother at birth
Low socioeconomic status
```
88
Heinz dilemma (theorist, essence)
Lawrence Kohlberg (1981)
In a 2 hour interview, 72 boys were presented with hypothetical moral dilemmas. Kohlberg's aim was to identify the reasons the boys had for their answers to the dilemma.
89
Kohlberg's stages of moral development
| 3 levels, 6 stages
Level I - Pre-conventional
1 - Obedience and Punishment Orientation
2 - Instrumental Relativist (self-interest) Orientation
Level II - Conventional
3 - Concordance Orientation (aka Interpersonal accord and conformity; 'Good boy/girl')
4 - Authority/Social Order Orientation
Level III - Postconventional
5 - Legalistic/Social Contract Orientation
6 - Universal Ethical Orientation
-------------
the ages at which these occur vary widely between sources
90
Which level + stage of moral development (Kohlberg)?
Focus is on direct consequence of action and unquestioning deference to power (not in terms of respect for an underlying moral order supported by punishment and authority)
Level I - Pre-conventional
Stage 1 - Obedience and Punishment Orientation
91
Which level + stage of moral development (Kohlberg)?
Right behaviour defined purely by what is in the individual's own interest (you scratch my back and I'll scratch yours, and what is important is what I want)
Level I - Pre-conventional
Stage 2 - Instrumental Relativist (self-interest) Orientation
92
Which level + stage of moral development (Kohlberg)?
Focus is on how the individual will appear to others
Level II - Conventional
Stage 3 - Concordance Orientation (aka Interpersonal accord and conformity; 'Good boy/girl')
93
Which level + stage of moral development (Kohlberg)?
What is lawful is judged to be morally right. Right behaviour is dictated by societal rules.
Level II - Conventional
Stage 4 - Authority/Social Order Orientation
94
Which level + stage of moral development (Kohlberg)?
Whatever provides the greatest good for the greatest number of people is correct
Level III - Postconventional
Stage 5 - Legalistic/Social Contract Orientation
95
Which level + stage of moral development (Kohlberg)?
The right action is the one that is consistent with abstract reasoning using universal ethical principles
Level III - Postconventional
Stage 6 - Universal Ethical Orientation
96
In a typically developing child, babbling is seen by what age?
6 months
97
Children adopted before what age do well in terms of attachment patterns?
4-5 years
98
According to Bowlby, the strong innate tendency to attach to one adult female is called ---.
-------------------------------------------------
This attachment is qualitatively different from later attachments made. Even when several carers are present, the infants appear to show a clear preference for the primary caregiver. The attachment process itself is more important than who the attachment figure is. The primary caregiver may be the mother or father or anyone who provided the greatest interaction with the child.
Monotropy
99
Attachment behaviour typically peaks between ---
12-18 months
100
By 18 months of age, what percentage of infants have multiple attachments?
87%
101
What percentage of people achieve Level III - Postconventional - morality?
15%
102
Gender identity - age of development
begins around 18 months and gets fixed by 24 to 30 months
103
Child development (age range):
Sleeps most of time, cries, and sucks
Birth
104
Child development (age range):
Responds to noise (either by crying, or quieting), follows an object moved in front of eyes
4 weeks
105
Child development (age range):
Begins smiling
6 weeks
106
Child development (age range):
Holds head steady on sitting
3 months
107
Child development (age range):
Rolls from stomach to back, starts babbling
6 months
108
Child development (age range):
Transfers objects from hand to hand, looks for dropped object
7 months
109
Child development (age range):
Sits unsupported, begins to crawl
9 months
110
Child development (age range):
Cruising (walking by holding furniture)
12 months
111
Child development (age range):
Walks without assistance, speaks about 10-20 words
18 months
112
Child development (age range):
Runs, climbs up and down stairs alone, makes 2-3 word sentences
2 years
113
Child development (age range):
Dresses self except for buttons and laces, counts to 10, feeds themselves well
3 years
114
Child development (age range):
Hops on one foot, copies a cross
4 years
115
Child development (age range):
Copies a triangle, skips
5 years
116
Imprinting
- theorist
- essence
Konrad Lorenz
the phase-sensitive attachment seen in some animals and in humans.
a specialised form of early learning and an example of an innate predisposition to acquire specific information
Lorenz observed Greylag geese, and showed that imprinting behaviour consists of three parts:-
1 - At some time after hatching the gosling will start to follow the first conspicuous object it sees (the 'following response')
2 - After following the object for a number of hours the hatchling will start to develop an attachment for the object
3 - Once an animal has imprinted, it develops a sexual preference, when it is mature, for the object on which it imprinted
117
Imprinting - key facts (4)
Imprinting is rapid (sometimes occurring within minutes)
Imprinting is unreinforced (no reinforcer is necessary for the response to occur)
Imprinting occurs during a clearly defined period (known as the critical period)
Imprinting is irreversible
118
Children normally single out a primary caregiver (usually but not always the mother) from ---
1 - 3 months
119
Specific attachment does not seem to take place before ---
6 months
120
Critical period for attachment formation
6 - 36 months
121
Bowlby's attachment model - 4 stages + ages
Preattachment (Birth to 6 weeks)
Attachment in the making (6 weeks to 6-8 months)
Clear cut attachment (6-8 months to 18-24 months)
Formation of reciprocal attachment (18 months to 2 years and on)
122
Bowlby's attachment model - stage + age
Baby orientates towards mother, follows them with their eyes, and turns to mother's voice. Complete attachment not yet complete and baby is still comfortable with unfamiliar people
Preattachment
Birth to 6 weeks
123
Bowlby's attachment model - stage + age
Infant becomes more attached to one or more persons in the environment. Begins to show different reactions to familiar people versus strangers. Separation anxiety not yet present
Attachment in the making
6 weeks to 6-8 months
124
Bowlby's attachment model - stage + age
Infant cries and shows distress when separated from the caregiver (separation anxiety). This phase can occur as early as 3 months. On being returned to the caregiver the crying stops. Child shows preference for selective caregivers and will seek to be near them
Clear cut attachment
6-8 months to 18-24 months
125
Bowlby's attachment model - stage + age
Child begins to understand that their caregiver may leave and return so separation anxiety lessens. Child may be less physically clingy but may begin to find more intelligent ways to influence their caregiver to get their needs met (bribing and sulking for instance)
Formation of reciprocal attachment
18 months to 2 years and on
126
Internal working model
- theorist
- essence
John Bowlby
A child's attachment relationship with their primary caregiver leads to the development of a cognitive framework comprising mental representations for understanding the world, self, and others
127
Lesch-Nyan Syndrome
- pathophysiology
- genetic pathology
- inheritance pattern
overproduction and accumulation of uric acid
Mutations in the HPRT1 gene -> severe deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1
X-linked recessive
========================================
hypoxanthine phosphoribosyltransferase 1 is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. When this enzyme is lacking, the breakdown of purines results in abnormally high levels of uric acid in the body.
128
Lesch-Nyan Syndrome
- clinical features
People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and are generally wheelchair-bound.
Self-injury, including biting and head banging, is the most common and distinctive behavioural problem
129
Attachment disorder - classification
- ICD-10
- DSM-IV
ICD-10
- Reactive
- Disinhibited
DSM-IV
- Inhibited
- Disinhibited
130
Attachment disorder -
abnormal pattern of relationships with caregivers that begins before age 5.
Children tend to be inhibited, and show ambivalence towards caregivers They are also hyper vigilant and are unresponsive to comforting.
Reactive (Inhibited) attachment disorder
131
Attachment disorder -
occurs in the first 5 years.
At age 2 it manifests by clinging and non-selective focussed attachment behaviour.
By age 4, diffuse attachments remain but clinging is replaced by attention seeking and indiscriminately friendly behaviour.
In most cases there will be a history of marked inconsistency in early care givers involving multiple changes.
Disinhibited attachment disorder
132
Fragile X Syndrome
- clinical features (7)
```
mental retardation
elongated face
large protruding ears
large testicles (in men)
shy, avoid eye contact, and have difficulties reading facial expressions
stereotypic movements e.g. hand flapping
'cluttered' speech
```
=====================
associated with autism, attention deficit/hyperactivity disorder, anxiety, and aggression
133
Fragile X Syndrome
- inheritance pattern
- genetic pathology
- pathophysiology
X-linked dominant
amplification of a CGG repeat in the fragile X mental retardation 1 gene (FMR1) - at Xq27
this disrupts synthesis of the fragile X protein (FMRP) known to be essential for brain function and growth
134
Male puberty
- Range during which puberty begins
- Mean age of onset
9 - 14 years
12 years
135
Female puberty
- Range during which puberty begins
- Mean age of onset
8-14 years
11 years
