ADHD...... Definition
Attention-deficit/hyperactivity disorder is
characterized by persistent patterns of inattention
or hyperactivity-impulsivity (or both) that
are more severe or more frequent than would
be expected from the patient's developmental
level. Some features must have been present
before the age of 7 years (although the diagnosis
may have been made by then).
Diagnostic criteria
DSM-IV criteria
DSM-IV subdivides attention-deficit/hyperactivity
disorder into three types:
· combined type;
· predominantly inattentive type;
· predominantly hyperactive-impulsive
type.
For each of these types, the following diagnostic
criteria must be met:
· some symptoms of hyperactivity-impulsivity
or inattention were present and caused impairment
before the age of 7 years;
· the symptoms cause impairment in
at least two settings (e.g. school or work
and home);
· there is clear evidence of significant
social, academic or occupational impairment;
· the symptoms do not occur only during
the course of pervasive developmental disorder,
schizophrenia or another psychotic disorder,
and they are not better accounted for by another
mental disorder.
The type of attention-deficit/hyperactivity
disorder is defined by the following criteria:
· in the combined type, both criteria
A1 and A2 (which follow) have been met in
the past 6 months;
· in the predominantly inattentive
type, criterion A1 has been met for the past
6 months but criterion A2 has not;
· in the predominantly hyperactive-impulsive
type, criterion A2 has been met for the past
6 months but criterion A1 has not.
Criterion A1 (criteria for inattention)
Criterion A1 states that at least six of the
following must have been present for at least
6 months to a maladaptive degree that is inconsistent
with the development level of the patient:
· often fails to give close attention
to details or makes careless mistakes in schoolwork,
work or other activities;
· often has difficulty sustaining attention
in tasks or play;
· often seems not to listen when spoken
to directly;
· often does not follow through on
instructions and fails to finish schoolwork,
tasks or workplace duties;
· often has difficulty organizing tasks
and activities;
· often avoids or dislikes or is reluctant
to engage in tasks that require sustained
mental effort;
· often loses things that are necessary
for tasks or activities;
· often easily distracted by extraneous
stimuli;
· often forgetful in daily activities.
Criterion A2 (criteria hyperactivity-impulsivity)
Criterion A2 states that at least six of the
following must have been present for at least
6 months to a maladaptive degree that is inconsistent
with the development level of the patient.
The hyperactivity criteria are:
· often fidgets with hands or feet
or squirms when sitting;
· often leaves seat in classroom or
at other times when remaining seated is expected;
· often runs about inappropriately
or climbs excessively (in adults, this feature
may be limited to feelings of restlessness);
· often has difficulty playing or engaging
in leisure activities quietly;
· often `on the go' or often acts as
if `driven by a motor'
· often talks excessively.
The impulsivity criteria are:
· often blurts out answers before questions
have been completed;
· often has difficulty awaiting turn;
· often interrupts or intrudes on others.
ICD-10 criteria
ICD-10 defines the same disorder as `disturbance
of activity and attention', one of the `hyperkinetic
disorders'.
The ICD-10 criteria are almost identical to
the DSM-IV criteria in the items listed. However,
ICD-10 has more stringent requirements as
to the number and types of criteria that must
be present for the diagnosis to be made -
it requires at least six of the inattention
items, at least three of the hyperactivity
items and at least one of the impulsivity
items.
ICD-10 also subdivides the disorder differently,
depending on whether conduct disorder is also
present.
Symptoms and signs
It is usual for parents to have observed excessive
motor activity when the patient was a toddler,
often when the child first began to crawl
or walk. The pattern of clinical features
largely depends on the age of the patient.
The disorder should be described as being
of the predominantly inattentive type, the
predominantly hyperactive-impulsive type or
the combined type on the basis of the features
for the past 6 months; it is possible for
patients to change between types.
In preschool children, the following may be
seen:
· temper tantrums;
· argumentative behavior;
· aggression;
· fearlessness (which often leads to
frequent accidental injury);
· boisterous behavior;
· sleep problems.
In school-age children, the following may
be seen:
· difficulties at school;
· poor peer relationships;
· development of comorbid disorders
(e.g. conduct disorder, oppositional defiant
disorder, Tourette syndrome, mood disorders,
anxiety disorders).
In adolescents, the following may be seen:
· an internal sense of restlessness,
as described by the patient;
· failure to complete independent academic
work;
· poorly organized approaches to school
and work;
· poor follow-through on tasks;
· risk-taking behaviors.
Prognosis
The clinical features often abate to a
greater or lesser extent in late adolescence
and adulthood. However, the individual prognosis
varies:
· 20-30% of children with attention-deficit/hyperactivity
syndrome do not manifest any symptoms as young
adults;
· 60-70% of children with attention-deficit/hyperactivity
syndrome continue to be troubled by at least
one of the disabling core symptoms as young
adults;
· 30% of children with attention-deficit/hyperactivity
syndrome meet the criteria for the full syndrome
at 18 years of age;
· 20-30% of children with attention-deficit/hyperactivity
syndrome develop more serious psychopathology,
such as substance abuse and antisocial personality
disorder.
Disorders
Index
A
B
CD E
F G
H I
J K
L M
N O
P Q
R S
T U
V W
X Y
Z
In 1965, Dr. Harry Angelman, an English physician,
first described three children with characteristics
now known as the Angelman syndrome (AS) (1).
He noted that all had a stiff, jerky gait, absent
speech, excessive laughter and seizures. Other
cases were eventually published (2-8) but the
condition was considered to be extremely rare
and many physicians doubted its existence. The
first reports from North America appeared in
the early 1980s (9, 10) and within the last
ten years many new reports have appeared (11-18).
Dr. Angelman relates the following regarding
his discovery of this syndrome (19).
"The history of medicine is full of
interesting stories about the discovery of
illnesses. The saga of Angelman's syndrome
is one such story. It was purely by chance
that nearly thirty years ago three handicapped
children were admitted at various times to
my children's ward in England. They had a
variety of disabilities and although, at first
sight, they seemed to be suffering from different
conditions, I felt that there was a common
cause for their illness. The diagnosis was
purely a clinical one because, in spite of
technical investigations which today are more
refined, I was unable to establish scientific
proof that the three children all had the
same handicap. In view of this I hesitated
to write about them in the medical journals.
However, when on holiday in Italy I happened
to see an oil painting in the Castelvecchio
museum in Verona called . . . a Boy with a
Puppet. The boy's laughing face and the fact
that my patients exhibited jerky movements
gave me the idea of writing an article about
the three children with a title of Puppet
Children. It was not a name that pleased all
parents but it served as a means of combining
the three little patients into a single group.
Later the name was changed to Angelman syndrome.
This article was published in 1965, and after
some initial interest, lay almost forgotten
until the early eighties."
AS has been reported throughout the world
among divergent racial groups. In North America,
the great majority of known cases seem to
be of Caucasian origin. Although the exact
incidence of AS is unknown, an estimate of
between 1 in 15,000 to 1 in 30,000 seems reasonable
(16, 20).
Developmental and physical features
Angelman syndrome is usually not recognized
at birth or in infancy since the developmental
problems are nonspecific during this time.
Parents may first suspect the diagnosis after
reading about AS or meeting a child with the
condition. The most common age of diagnosis
is between three and seven years when the
characteristic behaviors and features become
most evident. A summary of the developmental
and physical findings has recently been published
(21) for the purpose of establishing clinical
criteria for the diagnosis and these are listed
below. All of the features do not need to
be present for the diagnosis to be made, and
the diagnosis is often first suspected when
the typical behaviors are recognized.
Developmental History and Laboratory Findings
· Normal prenatal and birth history
with normal head circumference; absence of
major birth defects
· Developmental delay evident by 6
- 12 months of age
· Delayed but forward progression of
development (no loss of skills)
· Normal metabolic, hematologic and
chemical laboratory profiles
· Structurally normal brain using MRI
or CT (may have mild cortical atrophy or dysmyelination)
Consensus Criteria for Clinical Features in
Angelman Syndrome
Consistent (100%)
· Developmental delay, functionally
severe
· Speech impairment, none or minimal
use of words; receptive and non-verbal communication
skills higher than verbal ones
· Movement or balance disorder, usually
ataxia of gait and/or tremulous movement of
limbs
· Behavioral uniqueness: any combination
of frequent laughter/smiling; apparent happy
demeanor; easily excitable personality, often
with hand flapping movements; hypermotoric
behavior; short attention span
Frequent (more than 80%)
· Delayed, disproportionate growth
in head circumference, usually resulting in
microcephaly (absolute or relative) by age
2
· Seizures, onset usually < 3 years
of age
· Abnormal EEG, characteristic pattern
with large amplitude slow-spike waves
Associated (20 - 80%)
· Strabismus
· Hypopigmented skin and eyes
· Tongue thrusting; suck/swallowing
disorders
· Hyperactive tendon reflexes
· Feeding problems during infancy
· Uplifted, flexed arms during walking
· Prominent mandible
· Increased sensitivity to heat
· Wide mouth, wide-spaced teeth
· Sleep disturbance
· Frequent drooling, protruding tongue
· Attraction to/fascination with water
· Excessive chewing/mouthing behaviors
· Flat back of head
Genetic basis of AS For several decades the chromosome study
of AS individuals revealed no abnormalities,
but with the development of improved methods
a very small deleted area was found in chromosome
15. Molecular methods such as FISH (fluorescence
in situ hybridization) now demonstrate a deletion
in about 70% of individuals with AS. The deleted
area, although extremely small, is actually
quite large when viewed at the molecular level.
It is believed to be about 4 million base
pairs in length, enough to contain many genes.
The deleted region on chromosome 15 is known
to contain genes that are activated or inactivated
depending upon the chromosome's parent of
origin (i.e., a gene may be turned on on the
chromosome 15 inherited from the mother but
off on the chromosome 15 inherited from the
father). This parent-specific gene activation
is referred to as genetic imprinting. Because
the deletions seen in AS only occur on the
chromosome 15 inherited from the mother, the
gene(s) responsible for AS were predicted
to be active only on the maternal chromosome
15. Disruption of genes that are active on
the paternally-derived chromosome 15 is now
known to cause another developmental disorder
termed the Prader-Willi syndrome (PWS). The
PWS gene(s) are actually located close to
the AS gene, but they are different.
In 1997, a gene within the AS deletion region
called UBE3A was found to be mutated in approximately
5% of AS individuals (22, 23). These mutations
can be as small as 1 base pair. This gene
encodes a protein called a ubiquitin protein
ligase, and UBE3A is believed to be the causative
gene in AS. All mechanisms known to cause
AS appear to cause inactivation or absence
of this gene. UBE3A is an enzymatic component
of a complex protein degradation system termed
the ubiquitin-proteasome pathway. This pathway
is located in the cytoplasm of all cells.
The pathway involves a small protein molecule,
ubiquitin, that can be attached to proteins
thereby causing them to be degraded (24).
In the normal brain, the copy of UBE3A inherited
from the father is almost completely inactive,
so the maternal copy performs most of the
UBE3A function in the brain. Inheritance of
a UBE3A mutation from the mother causes AS;
inheritance of a UBE3A mutation from the father
has no detectable effect on the child. In
some families, AS caused by a UBE3A mutation
can recur in more than one family member.
Another cause of AS (2-3% of cases) is paternal
uniparental disomy (UPD), where the child
inherits both copies of chromosome 15 from
the father, with no copy inherited from the
mother. In this case, there is no deletion
or mutation, but the child is still missing
the active UBE3A gene because the paternal-derived
chromosomes only have brain-inactivated UBE3A
genes.
A fourth class of AS individuals (3-5% of
cases) have inherited chromosome 15 copies
from both mother and father, but the copy
inherited from the mother functions in the
same way that a paternal chromosome 15 should
function. This is referred to as an "imprinting
defect". Some AS individuals with imprinting
defects have very small deletions of a region
called the Imprinting Center (IC) (25, 26).
The IC regulates the activity of UBE3A from
a distant location, but how this regulation
occurs is not known. In some cases, AS caused
by imprinting defects can recur in more than
one member of a family.
These discoveries have led to the realization
that there are several genetic "classes"
or mechanisms that can cause AS (25, 27). All
of these mechanisms lead to the typical clinical
features of AS, although minor differences may
occur between and within groups. These mechanisms
are depicted on the diagram and summarized in
the table.
Definition
Asperger's disorder is a life-long disorder
that is usually first diagnosed in childhood
and that is characterized by severe impairment
in reciprocal social interaction and restricted
and repetitive patterns of behavior and
interests.
Diagnostic criteria
According to DSM-IV, Asperger's disorder
involves qualitative impairment in social
interaction, manifested by at least two
of:
· marked impairment in the use
of multiple non-verbal behaviors (e.g.
eye-to-eye gaze, facial expression, postures
and gestures);
· failure to develop relationships
with peers at an appropriate developmental
level;
· lack of spontaneous seeking to
share enjoyment with other people;
· lack of social or emotional reciprocity.
In addition, there must be repetitive
and stereotyped patterns of behavior and
interests, manifested by at least one
of:
· an encompassing preoccupation
with at least one stereotyped and restricted
interest that is abnormal in itself or
abnormal in intensity;
· an inflexible adherence to specific
and non-functional routines;
· stereotyped and repetitive motor
mannerisms;
· a persistent preoccupation with
parts of objects.
The disturbance must cause significant
functional impairment, and it must occur
in the absence of both significant language
delay and significant delay in cognitive
development.
Finally, the criteria for another specific
pervasive developmental disorder or for
schizophrenia must not be met.
The ICD-10 criteria for Asperger's syndrome
are similar in all important respects
to the DSM-IV criteria for Asperger's
disorder.
Symptoms and signs
The main clinical features of Asperger's
disorder are:
· a significant impairment in reciprocal
social interactions (e.g. a lack of interest
in peer relations in individuals aged
3 years and older, a lack of appreciation
of social cues and conventions, poor understanding
and use of non-verbal social cues, socially
inappropriate behaviors, gaze avoidance);
· a significantly restricted repertoire
of activities, interests and behaviors
(e.g. an obsession with complex specific
topics such as sports statistics, ritualized
patterns of daily behaviors and exclusion
of other activities);
· relatively normal language development
in the first 2 years of life - language
is lucid with good grammar appropriate
to the age of the patient, although it
may be stiff, formal, pedantic or repetitive,
or have odd prosody or other unusual characteristics;
in conversation, patients may pursue a
topic of interest to themselves despite
social cues from others to change the
subject.
· self-help skills and general
adaptive behavior (apart from social interaction)
that are appropriate to the age of the
patient;
· impulsive aggressive behavior;
· mild clumsiness or awkwardness;
· poor visual-motor or visual-spatial
skills compared with verbal skills.
Prognosis
Asperger's disorder is a life-long condition.
The prognosis is variable, but people
with Asperger's disorder may learn ways
of responding more appropriately to verbal
and social cues. Many adults with the
disorder are able to lead self-sufficient
lives, although they may be considered
`odd'.
Autism
......
DSM-IV Criteria
299.00 Autistic Disorder
A. A total of six (or more) items from
(1), (2), and (3), with at least two from
(1), and
one each from (2) and (3):
(1) Qualitative impairment in social
interaction, as manifested by at least
two of the
following:
(a) Marked impairment in the use of multiple
nonverbal behaviors, such as eye-to- eye
gaze, facial expression, body postures,
and gestures to regulate social interaction
(b) Failure to develop peer relationships
appropriate to developmental level
(c) A lack of spontaneous seeking to share
enjoyment, interests, or achievements
with
other people (e.g., by a lack of showing,
bringing, or pointing out objects of
interest)
(d) Lack of social or emotional reciprocity
(2) Qualitative impairments in communication,
as manifested by at least one of the
following:
(a) Delay in, or total lack of, the development
of spoken language (not
accompanied by an attempt to compensate
through alternative modes of
communication such as gesture or mime)
(b) In individuals with adequate speech,
marked impairment in the ability to initiate
or sustain a conversation with others
(c) Stereotyped and repetitive use of
language or idiosyncratic language
(d) Lack of varied, spontaneous make-believe
play or social imitative play
appropriate to developmental level
(3) Restricted, repetitive, and stereotyped
patterns of behavior, interests, and activities
as manifested by at least one of the following:
(a) Encompassing preoccupation with
one or more stereotyped and restricted
patterns of interest that is abnormal
either in intensity or focus
(b) Apparently inflexible adherence to
specific, nonfunctional routines or rituals
(c) Stereotyped and repetitive motor mannerisms
(e.g., hand or finger flapping or
twisting or complex whole-body movements)
(d) Persistent preoccupation with parts
of objects
B. Delays or abnormal functioning in
at least one of the following areas, with
onset
prior to age 3 years: (1) social interaction,
(2) language as used in social
communication, or (3) symbolic or imaginative
play.
C. The disturbance is not better accounted
for by Rett's disorder or childhood
disintegrative disorder.
Autism is a severe disorder characterized
by abnormalities in social functioning
language and communication and by unusual
interests (Prizant, 1996). The disorder
affects every aspect of the child’s
interaction of his or her world involves
many parts of the brain and undermines
the very traits that make us human (Sigman
and Ungerer, 1984). Autism is a spectrum
disorder which means that its symptoms
are expressed in many combinations and
any degree if severity (Davis, Fennoy,
Laraque, & Kanem, 1992).
Core Characteristics
A. Prevalence
Autism is a rare disorder affecting approximately
4-5 children per 10, 000 with some estimates
running as high as 15-20 (Bolton, MacDonald,
Pickels, Rios, Goode, Crowson, Bailey,
Rutter 1994). Autism is found in all social
classes and in every country in which
it has it has been sought. It is 3-4 times
more common in boys then girls. The greater
number of boys appears in groups with
IQ’s in the normal range. When girls
are affected they tend to be more cognitively
impaired (Bolton et al., 1994).
B. Prognosis
There is no real “cure” for
autism. Most children with autism show
a gradual improvement of their symptoms
with age even though they continue to
experience many problems. In early studies
describing outcomes for children with
autism who received limited help, only
1% to 2% of them became normal in the
sense of being indistinguishable from
others. About 10% had good outcomes, meaning
that they achieved near,-normal functioning
in their social behavior and language,
progressed in school or work, but continued
to display oddities of speech or personality.
Another 20% had fair outcomes, making
social and educational gains despite significant
handicaps that did not permit them to
lead an independent existence (Lotter,
1978). Notably the two strongest predictors
of adult outcomes in children with autism
are IQ and language development.
C. Social Impairments
Children with autism experience profound
difficulties in relating to other people
(Bolton, MacDonald, Pickels, Rios, Goode,
Crowson, Bailey, Rutter 1994). As they
grow older children with autism initiate
few social behaviors and seem unresponsive
to other people's feelings (Weeks &
Hobson, 1987). Children with autism generally
have great difficulty integrating social,
communicative, and emotional behaviors,
as would be required when greeting a familiar
person who enters the room. (Baron-Cohen,
Laa, & Riviere, 1995).
Children with autism display impairments
in all aspects of social attention, which
is the ability to coordinate one's focus
of attention on another person and an
object of mutual interest (Joliffe &
Cohen Baron, 1997).
Most children with autism respond differently
to their care-givers than to unfamiliar
adults (Joliffe et al., 1997). The proportion
of children with autism who display a
secure attachment is 40-50%, slightly
lower than that of the normal population.
Children with autism also display impairment
in emotional understanding, such as information
involved in body language, gestures, facial
expressions, and prosody (Weeks et al.,
1987).
D. Communication Impairments:
Children with autism display serious abnormalities
in communication and language that appear
early in life and persist overtime (Davis
et al, 1992). One of the first signs of
language impairment is their inconsistency
in using early preverbal communication,
such as proto-imperative, expressions
of needs and proto-declarative gestures,
direction of another's attention (Prizant,
1996). Children with autism display several
characteristic forms of abnormal speech.
For example, common in this population
are pronoun reversals, echolalic speech,
perseverative speech, and a lack of understanding
of pragmatics, or the social understanding
of speech (Hardman, Drew & Egan, 1996).
E. Repetitive Interests and Behaviors:
Children with autism often display narrow
patterns of interest, and seem driven
to engage in and maintain those interests
and behaviors associated with them (Bee,
1998). Children with autism also tend
to display self-stimulatory behaviors,
such as hand flapping, pencil spinning,
singing, head banging, or oral-motor stimulation
(Bee, 1997). The purpose of these behaviors
is speculated to originate from a lack
of attentional control, whereby the child
with autism is unable to attend to only
certain aspects of their environment (
Bee, 1997; Courchesne, Chisum & Townsend
1995). This influx of stimulation proves
to be overwhelming to the child, and these
behaviors compensate by providing focus
on a narrow range of stimulation
F. Cognitive Functioning:
About 80% of children with autism also
have mental retardation, with approximately
60% having IQ's less than 50, and 20%
having IQ's between 50 and 70 (Barth,
Fein & Waterhouse, 1995). Splinter
skills and savantism are sometimes seen
in this population. However, their frequency
(25% for islets of ability and 5% for
savantism) is rare (Barth et al., 1995).
G. Sensory and Perceptual Impairments:
Sensory abnormalities include over sensitiveness
or under sensitiveness to stimulation,
over selectiveness and impaired shifting
of attention to sensory input, and impairments
in cross-modal sensory integration (Klinger
& Dawson, 1995).
CP ......
Introduction
Cerebral palsy (CP) is a neurological disorder
affecting body movement and muscle coordination.
CP is typically caused by an injury to the brain
before, during, or shortly after birth. (However,
it is also used as an umbrella term to describe
disorders which impair the control of movement
resulting from faulty development of areas of
the brain.) When the brain injury occurs while
the baby is still in the womb (80% of reported
cases), it is difficult to explain what caused
the problem. It may be caused by abnormal fetal
brain development, an infection, an accident
in which the mother was injured, a medical condition
that the mother had during pregnancy, such as
high blood pressure or diabetes, or unknown
biochemical or genetic factors. If the injury
occurs during birth (10% of reported cases),
it is usually due to a deprivation of oxygen
or an injury upon having a difficult delivery.
Last, if the injury occurs after birth (10%
of reported cases), it may be due to a baby
being born prematurely, where his or her body
is not ready to survive outside the mother's
womb, an infection, an accident where the baby
is injured (i.e., motor vehicle), or bleeding
in the brain. Approximately 1 in every 1,000
infants have some form of CP.
CP was first described in the 1860's by an English
physician named William Little. He wrote about
children who were stiff, had spastic muscles
(more so in the legs than arms), and had difficulty
grasping objects, crawling, and walking. The
condition was called Little's disease, however,
he was describing what is now known as spastic
diplegia cerebral palsy.
Features
and Characteristics
Children with CP have the inability to control
their muscle coordination. Depending on where
the damage to their brain occurred, they may
have muscle tone that is too tight, too loose,
or a combination of both. In addition, some
children may have abnormal sensation and perception;
impaired sight, hearing or speech, seizures,
mental retardation, feeding difficulties, learning
disabilities, bladder and bowel control, and
difficulty breathing due to postural difficulties.
There are four different types of cerebral palsy:
Spastic Cerebral Palsy
If the muscle tone is too high or too tight,
the individual has spastic CP. Children with
spastic CP often have stiff and jerky movements
due to their tone. They often have a hard time
moving from one position to another, and often
times have difficulty letting go of an object
with their hand. Spastic CP is the most common
type; approximately 50% of individuals with
CP have spastic CP. Ataxic Cerebral Palsy
When the individual has low muscle tone
and poor coordination of movement, they are
described as having ataxic CP. Children who
are ataxic, look shaky (tremor-like) when trying
to perform a task. They often have poor balance
and may be very unsteady when they walk.
Athetoid Cerebral Palsy
Athetoid CP is used to describe the individual
who has both low and high tone. Children with
this type of CP have difficulty holding themselves
upright or steady for sitting or walking and
have involuntary movements in their arms, upper
bodies, and face. Because of these movements,
it takes a lot of hard work and concentration
to reach for an object. In addition, mixed tone
causes them to have difficulty holding onto
things.
Mixed Cerebral Palsy
This type of CP is used to describe the
individual who experiences both low and high
tone.
In addition to having the different types of
CP, there are also classifications for the areas
of the body that the CP affects:
Quadriplegia
This refers to the individual who is affected
in all four limbs. Children with quadriplegia
have difficulty moving all of their body parts,
and often times require a wheelchair for mobility.
Due to the problems controlling the muscles
in their face and upper body, they may have
trouble speaking and eating.
Hemiplegia
This term is used to describe individuals who
have CP that affects only one side of their
body - either the right arm and leg or the left
arm and leg - while the other side functions
normally. Children with hemiplegia are able
to walk and run, however, may have a slight
limp or awkwardness in their gait.
Diplegia
Individuals who have diplegia are only affected
in their legs. Walking or running may be difficult
for them, however, since their upper body is
not affected, they are able to hold themselves
upright and have good use of their arms and
hands.
Diagnosis Physicians diagnose CP by looking at the
child's motor skills, medical history, development,
and
characteristics described above. The physician
will also test reflexes and look for early development
of hand preference (babies younger than 12 months
generally do not show hand preference). In addition,
the physician must also rule out other disorders
that can cause movement problems. The doctor
must rule out that the disorder is not getting
worse, as CP is not progressive. If the child
is losing skills, he or she may have a genetic
disorder, metabolic disorder, or muscle disease.
Many times, a CT-scan, MRI, and a sonogram may
be ordered as well to identify brain disorders
or areas that are underdeveloped.
Definition
Fragile X syndrome is an X-linked-recessive
defect of the X chromosome that causes a
number of mental and physical problems,
most notably mental retardation.
Diagnostic criteria
Neither DSM-IV nor ICD-10 provides diagnostic
criteria for fragile X syndrome.
Symptoms and signs
Males are typically more severely
affected than females.
Common mental and behavioral features
of fragile X syndrome include:
· mental retardation, which is
usually mild to profound in males; among
females with the full mutation, about
half are mentally retarded or have educational
difficulties.
· attentional deficits, hyperactivity,
autism or autistic-like behaviors;
· `cluttered' speech or short bursts
of repetitive speech;
· anxiety or mood instability.
Common signs of fragile X syndrome include:
· macrocephaly;
· unusual facies (large ears, long
face and prognathism);
· crowding of teeth;
· mild connective tissue dysplasia;
· hyperextensible joints;
· mild cutis laxa;
· flat feet;
· mitral valve prolapse or aortic
dilatation;
· macro-orchidism;
· ocular anomalies (e.g. pale blue
irises, myopia, nystagmus, strabismus).
Prognosis
The life span of patients with fragile
X syndrome is normal.
Early somatic growth is often accelerated.
Developmental milestones are delayed but
there is no evidence of regression.
LD......
Definition
There are three main types of learning disorder
- reading disorder, mathematics disorder and
disorder of written expression. These disorders
may be defined as achievement in reading, mathematics
or writing that is substantially below the level
that would be expected for the patient's chronological
age, measured intelligence and education.
Diagnostic criteria The DSM-IV diagnostic criteria for the
learning disorders state that:
· achievement in the relevant area
(reading, mathematics or writing) must be
substantially below what would be expected
given the patient's chronological age, measured
intelligence and age-appropriate education;
· the under-achievement must significantly
interfere with academic achievement or activities
of daily living;
· if a sensory deficit is present,
the degree under-achievement must be greater
than what would usually be associated with
it.
The level of achievement must be measured
by individually administered, standardized
tests.
The ICD-10 criteria for specific reading disorder
and specific disorder of arithmetical skills
describe essentially the same conditions as
the DSM-IV criteria for reading disorder and
mathematics disorder, respectively, with the
important difference that in the ICD-10 criteria,
specific reading disorder takes precedence
over specific disorder of arithmetical skills,
so that if criteria for both disorders are
met only specific reading disorder would be
diagnosed (in contrast with the DSM-IV criteria,
which permit a dual diagnosis).
ICD-10 includes diagnostic criteria for specific
spelling disorder; although spelling difficulties
are included in the DSM-IV criteria for disorder
of written expression, problems with writing
skills in addition to spelling are required
for this diagnosis to be made.
Prognosis
None of the learning disorders becomes
apparent until sufficient teaching has taken
place for the
problems to become noticeable. Children with
good intelligence may function well in the
early years of school and develop difficulties
only as the expected standards of achievement
become higher. Reading disorder in particular
responds well with appropriate treatment.
Less is known about the long-term prognosis
of mathematics disorder or disorder of written
expression. All three types of learning disorder
can persist into adulthood.
PDD
......
Pervasive Developmental Disorders is diagnosed
using the DSM Diagnostic Statistics Manual.
It is not diagnosed medically by a urine,
blood, gentic chromosomal or neurological
tests. Parental evaluation, observation,
langauge and cognitive assessment are used
to evalute the child's current level of
functioning.
PDD-NOS
......
Prader......
Definition
Prader-Willi syndrome is a chromosomal disorder
caused by a deletion of chromosome 15. It is
associated
with mental retardation and behavioral problems.
Diagnostic criteria
Neither DSM-IV nor ICD-10 (in its classification
of mental disorders) includes diagnostic criteria
for Prader-Willi syndrome.
Symptoms and signs
Clinical features of Prader-Willi syndrome
include:
· mental retardation, which is mild
in 60% of patients and moderate in 30%;
· developmental delay;
· infantile hypotonia, with early feeding
difficulties secondary to hypotonia being
particularly common;
· self-injurious behavior (e.g. picking
at the skin);
· speech delay, articulation problems
and hypernasal speech;
· food-related behavior problems (e.g.
excessive appetite, absence of satiation,
obsession with eating) usually starting in
early childhood and often leading to morbid
obesity by mid-childhood;
· other behavior problems (e.g. perseveration,
poor control of temper), which become more
frequent in later childhood;
· high pain threshold;
· short stature of post-natal onset;
· small hands and feet.
· unusual facies, with almond-shaped
eyes and upslanting palpebral fissures;
· strabismus;
· hypogonadism - micropenis and cryptorchidism;
hypogonadotropism with delayed puberty and
infertility;
· hypopigmentation.
· esotropia, myopia.
The following characteristics are most often
found in individuals with PWS and are considered
diagnostic criteria for the syndrome (Holm
et al, Pediatrics 91, 2, 1993):
Major Clinical Findings
· Neonatal and infantile central hypotonia,
improving with age
· Feeding problems and poor weight
gain in infancy
· Excessive or rapid weight gain between
1 and 6 years of age; central obesity in the
absence of intervention
· Distinctive facial features - dolichocephaly
in infants, narrow face/bifrontal diameter,
almond-shaped eyes, small-appearing mouth
with thin upper lip and down-turned corners
of mouth
· Hypogonadism - genital hypoplasia,
including undescended testes and small penis
in males; delayed or incomplete gonadal maturation
and delayed pubertal signs after age 16, including
scant or no menses in women
· Global developmental delay before
age 6; mild to moderate mental retardation
or learning problems in older children
· Hyperphagia/food foraging/obsession
with food
Minor Clinical Findings
· Decreased fetal movement, infantile
lethargy, weak cry
· Characteristic behavior problems
- temper tantrums, violent outbursts, obsessive/compulsive
behavior; tendency to be argumentative, oppositional,
rigid, manipulative, possessive, and stubborn;
perseverating, stealing, lying
· Sleep disturbance or sleep apnea
· Short stature for genetic background
by age 15
· Hypopigmentation - fair skin and
hair compared with family
· Small hands and/or feet for height/age
· Narrow hands with straight ulnar
border
· Eye abnormalities (esotropia, myopia)
· Thick, viscous saliva with crusting
at corners of the mouth
· Speech articulation defects
· Skin picking
Supportive Findings
· High pain threshold
· Decreased vomiting
· Temperature instability in infancy
or altered temperature sensitivity in older
children and adults
· Scoliosis or kyphosis (curvature
of the spine)
· Early adrenarche (pubic or axillary
hair before age 8)
· Osteoporosis (demineralization, or
thinning, of the bones)
· Unusual skill with jigsaw puzzles
· Normal neuromuscular studies
Hyperphagia (abnormal increased appetite)
The cause of hyperphagia in individuals with
PWS is thought to be the result of a dysfunction
in the hypothalamus. Compulsive eating begins
before age 6. The urge to eat is physiological
and totally overwhelming. The risk of obesity
results not only because individuals with
PWS have an insatiable appetite, but because
they also burn less calories than others due
to low muscle mass and inactivity. Unless
their diet is carefully controlled, weight
gain can be very rapid leading not only to
obesity, but to disease and early death as
well. Appetite suppressants have not been
proven to be effective in individuals with
PWS.
Hypotonia
Motor skills are usually 1 to 2 years
behind due to the hypotonia. Balance, strength,
coordination and motor planning are often
affected. Growth hormone treatment may increase
motor skills by increasing muscle mass. Physical
therapy and occupational therapy may be useful
in promoting development in the affected areas.
In addition, low tone may cause feeding problems
due to an inability to suck, and could, therefore,
result in the infant requiring a feeding tube
for the first few days or weeks of life.
Speech articulation defects
Hypotonia can also lead to poor speech skills.
The need for speech therapy should be addressed
in early infancy. Speech problems can lead
to frustration and sometimes aggressive behavior.
Products to increase saliva may help articulation
skills, however, other forms of communication
may be necessary, such as sign language or
communication boards. Though children with
PWS have problems with articulation, verbal
ability often becomes a strength for them.
Developmental Delay/Learning Disabilities
IQS of individuals with PWS range from 40
to 105, with an average of 70. Those who do
have an IQ in the "normal" range
typically have learning disabilities and the
spread of their abilities is mixed. Areas
in which the child may have difficulties are
with attention, short-term auditory memory,
and abstract thinking. However, they do exhibit
strengths in the areas of long-term memory,
reading ability, and receptive language.
Diagnosis
There are several diagnostic studies used
to test for PWS. Methylation analysis is a
test that can detect virtually all cases of
PWS, however, the test is not available everywhere.
Therefore, FISH (for deletion cases) and PCR
(for UPD cases) testing may be used. Together,
these two tests will identify 99% of the cases.
With the latest molecular testing available,
patients who tested negative with older tests
should be retested. In addition to genetic
testing, diagnostic criteria for clinical
recognition of PWS (as shown above) has also
been made available.
Prognosis
Morbidity and mortality are secondary to complications:
· early hypotonia (e.g. aspiration);
later morbid obesity (e.g. coronary artery
disease, hypertension, diabetes, sleep apnea)
Diagnostic Criteria
Required for the recognition of Rett syndrome
after the exclusion of other handicapping
conditions
· Period of apparently normal development
until between 6-18 months
· Normal head circumference at birth
followed by slowing of the rate of head
growth with age (3 months -4 years)
· Severely impaired expressive language
and loss of purposeful hand skills, which
combine to make assessment of receptive
language and intelligence difficult
· Repetitive hand movements including
one or more of the following: hand washing,
hand wringing, hand clapping, hand mouthing,
which can become almost constant while awake
· Shakiness of the torso, which may
also involve the limbs, particularly when
upset or agitated
· If able to walk, unsteady, wide-based,
stiff-legged gait/toe-walking
Definition
Tourette syndrome is a condition that presents
in childhood and is characterized by multiple
motor and vocal tics that usually follow
a waxing and waning course. It is commonly
associated with a number of behavioral abnormalities
and psychological disorders such as attention
deficit hyperactivity disorder, obsessive-compulsive
disorder and learning problems.
Diagnostic criteria The DSM-IV diagnostic criteria for
Tourette syndrome list the following as
the basis for making the diagnosis: · both multiple motor tics
and one or more vocal tics must be present
at some time, although not necessarily
concurrently; · the tics must occur many
times a day (usually in bouts) nearly
every day or intermittently over more
than 1 year, during which time there must
not have been a tic-free period of more
than 3 consecutive months; · the age at onset must
be less than 18 years; · the disturbance must not
be due to the direct physiological effects
of a substance (e.g. stimulants) or a
general medical condition (e.g. Huntington's
disease or postviral encephalitis).
The ICD-10 calls the disorder `combined
vocal and multiple motor tic disorder
(de la Tourette's syndrome)' and classifies
it as one of the tic disorders. The ICD-10
diagnostic criteria are less strict about
the age of onset than the DSM-IV criteria.
Symptoms and signs
Tics A tic is a sudden, rapid, recurrent,
nonrhythmic, stereotyped motor movement
or vocalization. A hallmark of a tic is
that the patient can suppress it for a
period of time. Tics are often worse in
times of anxiety, fatigue or other stress.
They disappear during sleep in most patients.
Motor tics Motor tics may take many forms. They
typically involve the face and head (e.g.
blinking, mouth opening, grimacing, head
shaking), although they may involve another
part of the body.
Vocal tics A vocal tic may involve virtually
any repetitive, stereotyped sound or utterance.
Typical examples include sniffing, throat
clearing, humming and coughing, but more
obvious noises (such as barking or hooting)
occur. Coprolalia affects a minority of
patients.
Echopraxia, pallilalia and echolalia
Echopraxia, pallilalia and echolalia
are often present in patients with Tourette
syndrome.
Prognosis In some patients, Tourette syndrome
is a chronic condition that has onset
in childhood and persists into adult a
Resources 
ADHD......