ELIMINATION DISORDERS
Functional Encopresis
The essential feature of this disorder is repeated involuntary (or, much more
rarely, intentional) passage of feces into places not appropriate for that purpose
(e.g., clothing or floor). In order to make the diagnosis, the event must occur at
least once a month (or at least six months, the chronologic and mental age of the
child must be at least four years, and physical disorders that can cause fecal
incontinence, such as aganglionlc megacolon, must be ruled out.
The stool may be of normal or near-normal consistency, or liquid, as in the case
of overflow incontinence secondary to functional fecal retention. When the
passage of feces is involuntary rather than intentional, it is often related to
constipation, impaction, or retention with subsequent overflow. The constipation
may develop because the child, for psychological reasons, avoids defecating,
because of either anxiety about defecating in a particular place or a more general
pattern of oppositional behavior. In other children, the constipation develops for
physiologic reasons, such as dehydration associated with a febrile illness or
medication. Once conitipation has developed, it may be complicated by an anal
fissure, painful defecation, and further fecal retention.
Functional Encopresis is generally referred to as primary if it has not been
preceded by a period of fecal continence lasting at least one year, and secondary
if it has been preceded by a period of fecal continence lasting at least one
year.
Associated features. Very often the child feels ashamed or embarrassed, and
may wish to avoid situations that might lead to embarrassment, such as camp or
even school. When the incontinence is clearly deliberate, antisocial and other
psychopathological features are common. Smearing feces may be deliberate, and
should be differentiated from smearing that takes place accidentally in the child's
attempt to clear or hide feces passed involuntarily. Twenty-five percent of children
with Functional Encopresis also have Functional Enuresis.
Course. Functional Encopresis rarely becomes chronic, but unless treated,
can persist for years.
Age at onset. By definition, primary Functional Encopresis begins by age
four. Secondary Functional Encopresis usually begins between the ages of four
and eight.
Impairment. The amount of impairment directly attributable to the disorder is
primarily a function of the effect on the child's self-esteem; the degree of social
ostracism by peers; and anger, punishment, and rejection on the part of
caretakers.
Complications. None.
Predisposing factors. inadequate, inconsistent toilet training and psychosocial
stress, such as entering school and the birth of a sibling, may be predisposing
factors.
Prevalence. it is estimated that approximately 1 % of five-year-olds have the
disorder. Primary Functional Encopresis apparently is more common in lower
socioeconomic classes.
Sex ratio. The disorder is more common in males than in females.
Familial pattern. No information.
Differential diagnosis. Functional Encopresis must be differentiated from
structural organic causes of Encopresis, such as aganglionic megacolon, which
need to be ruled out by physical examination and laboratory procedures.
(Diagnostic Criteria for Functional Encopresis)
A. Repeated passage of feces into places not appropriate for that purpose
(e.g., clothing, floor), whether involuntary or intentional. (The disorder may
be overflow incontinence secondary to functional fecal retention.)
B. At least one such event a month for at least six months.
C. Chronologic and mental age, at least four years.
D. Not due to a physical disorder, such as agalgIionic megacolon.
Specify primary or secondary type.
Primary type: the disturbance was not preceded by a period of fecal
continence lasting at least one year.
Secondary type: the disturbance was preceded by a period Of fecal
continence lasting at least one year.
Functional Enuresis
The essential feature of this disorder is repeated involuntary or intentional voiding
of urine during the day or at night into bed or clothes, after an age at which
continence is expected. In order to make the diagnosis, etiologic physical
disorders must be ruled out. The disorder is somewhat arbitrarily defined by at
least two such events per month for children between the ages of five and six,
and at least once a month for older children.
Functional Enuresis is often referred to as primary if it has not been preceded
by a period of urinary continence lasting at least one year, and secondary if it has
been preceded by a period of urinary continence lasting at least one year. Either
of the above types may be nocturnal (most common), defined as the passage of
urine during sleep time only, diurnal, defined as the passage of urine during
waking hours, or both diurnal and nocturnal.
In most cases of nocturnal Functional Enuresis, the child awakens with no
memory of a dream and no memory of having urinated. Typically the disturbance
occurs during the first third of the night. In a few cases the voiding takes place
during the rapid eye movement (REM) stage of sleep, and in such cases the child
may recall a dream that involved the act of urinating.
Associated features. Although the great majority of children with Functional
Enuresis do not have a coexisting mental disorders; the prevalence of coexisting
mental disorders is greater in those with Functional Enuresis than in the general
population. Functional Encopresis, Sleepwalking Disorder, and Sleep Terror
Disorder may also be present.
Course. Most children with the disorder become continent by
adolescence, but in approximately I % of cases, the disorder continues into
adulthood.
Age at onset. Primary Functional Enuresis by definition begins by age
five. In most cases of secondary Functional Enuresis, onset is between the ages
of five and eight.
Impairment. The amount of impairment directly attributable to the
disorder is primarily a function of the effect on the child's self-esteem; the degree
of social ostracism by peers; and anger, punishment, and rejection on the part of
caretakers.
Complications. None.
Predisposing factors. Among predisposing factors are delay in the
development of the supporting musculature of the bladder, and impaired ability of
the bladder to adapt to urinary filling without changes in intravesical pressure,
resulting in a lower bladder volume threshold for involuntary voiding; delayed or
lax toilet training; and psychosocial stress, in particular, hospitalization between
the ages of two and four, entering school, and the birth of a sibling.
Prevalence and sex ratio. The prevalence of Functional Enuresis as defined here
is: at age 5, 7% for males, and 3% for females; at age 10, 3% for males, and
2% for females; and at age 18,1 % for males, and almost nonexistent for
females.
Familial pattern. Approximately 75% of all children with Functional Enuresis
have a first-degree biologic relative who has, or has had, the disorder. The
concordance for the disorder is greater in monozygotic than in dizygotic
twins.
Differential diagnosis. Organic causes of enuresis such as diabetes,
seizure disorder, and urinary tract infection should be ruled out by appropriate
physical examinations.
(Diagnostic Criteria for Functional Enuresis)
A. Repeated voiding of urine during the day or night into bed or clothes,
whether involuntary or intentional.
B. At least two such events per month for children between the ages of five
and six, and at least one event per month for older children.
C. Chronologic age at least five, and mental age at least four.
D. Not due to a physical disorder, such as diabetes, urinary tract infection, or
a seizure disorder.
Specify primary or secondary type.
Primary type: the disturbance was not preceded by a period of urinary
continence lasting at least one year.
Secondary type: the disturbance was preceded by a period of urinary
continence lasting at least one year.
SPEECH DISORDERS NOT ELSEWHERE CLASSIFIED
Cluttering
The essential feature of Cluttering is a disturbance of fluency involving an
abnormally rapid rate and erratic rhythm of speech that impedes intelligibility.
Faulty phrasing patterns are usually present so that there are bursts of speech
consisting of groups of words that are not related to the grammatical structure of
the sentence. The affected person is usually unaware of any communication
impairment.
Associated features. Common associated features include: (a) articulation
errors (with sounds or syllables being omitted, substituted, or transposed); (b)
expressive language errors involving lapses in syntax (Example: entire words
may be omitted, or replaced with "uh"); (c) Academic Skills Disorders; (d)
Attention-deficit Hyperactivity Disorder; and (e) auditory-perceptual or
visual-motor impairments.
Age at onset. Usual onset of the disorder is after the age of seven.
Course, impairment, complications, predisposing factors, prevalence,
and sex ratio. No information.
Familial Pattern. There may be a family history of Cluttering or of impairment
in spoken or written language.
Differential diagnosis. Normal childhood dysfluency is an intermittent and
transient condition occurring around the age of two years. Stuttering and spastic
dysphonia are characterized by an awareness or distress about the speech
dysfluency that is not present in Cluttering.
(Diagnostic Criteria for Cluttering)
A disorder of speech fluency involving both the rate and the rhythm of speech
and resulting in impaired speech intelligibility. Speech is erratic and
dysrhythmic, consisting of rapid and jerky spurts that usually involve faulty
phrasing patterns (e.g., alternating pauses and bursts of speech that produce
groups of words unrelated to the grammatical structure of the sentence).
Stuttering
The essential feature of this disorder is a marked impairment in speech fluency
characterized by frequent repetitions or prolongations of sounds or syllables.
Various other types of speech dysfluencies may also be involved, including
blocking of sounds or interjections of words or sounds. The extent of the
disturbance varies from situation to situation and is more severe when there is
special pressure to communicate, as during a job interview. There are anecdotal
reports that in even the most severe cases, Stuttering is often absent during oral
reading, singing, or talking to inanimate objects or to pets. In the United States,
stammering is not distinguished from Stuttering.
Associated features. With the initial onset of the disorder, the speaker is
usually unaware of the problem. Later, awareness and even fearful anticipation of
the problem occur. The speaker may attempt to avoid stuttering by: (1) linguistic
mechanisms (e.g., altering the rate of speech, avoiding certain speech situations
such as telephoning or public speaking, or avoiding certain words or sounds); and
(2) motor movements accompanying the speech dysfluencies (eye blinks, tics,
tremors of the lips or face, jerking of the head, breathing movements, or fist
clenching).
Other disorders commonly associated with Stuttering in childhood include
Developmental Articulation Disorder, Developmental Expressive Language
Disorder, Attention-deficit Hyperactivity Disorder, and Anxiety Disorders.
Age at onset. Stuttering begins during the course of speech and language
development. Retrospective studies of people with Stuttering report onset
typically between ages two and seven (with peak onset at around age five).
Onset occurs before age ten in 98% of cases.
Course. The onset of Stuttering is usually insidious, covering many months
during which time episodic, unnoticed speech dysfluencies become a chronic
problem. Typically, the disturbance starts gradually, with repetition of initial
consonants, whole words that are usually the first words of a phrase, or long
words. The child is generally not aware of the Stuttering. As the disorder
progresses, the repetitions become more frequent, and the Stuttering occurs on
the most important words or phrases. As the child becomes aware of the speech
difficulty, mechanisms for avoiding the dysfluencies, motor responses, and
emotional responses may appear.
Approximately 80% of people with Stuttering recover (60% spontaneously),
recovery typically occurring before age 16. Aside from gender, recovery being
more common in females, no factors (including treatment, age at onset, or
seventy) have been shown to be clearly associated with recovery.
Impairment and complications. Impairment of social functioning may result
from associated anxiety, frustration, or low self-esteem. In adults, limitation in
occupational choice or advancement is the principal complication.
Predisposing factors. Recent research involving family and twin studies
provides strong evidence of a genetic factor in the etiology of Stuttering. The
presence of Developmental Articulation or Developmental Expressive Language
Disorder, or a family history of these, increases the likelihood of Stuttering. Stress
or anxiety have been shown to exacerbate Stuttering, but are not thought to play
a role in the etiology.
Prevalence. Approximately 5% of children have Stuttering. Stuttering is more
common in younger children than in older ones, an estimated 10% of
elementary-school-age children being affected. The prevalence for adults is
estimated at 1%.
Sex ratio. The male-to-female ratio is approximately three to one.
Familial pattern. There is a strong familial incidence, some studies reporting
as many as 50% of first-degree biologic relatives being affected. There is high
concordance in monozygotic twins.
Differential diagnosis. Stuttering must be distinguished from normal
childhood dysfluency, an intermittent speech dysfluency with no associated
features occurring around age two. The clinical features are virtually
indistinguishable from Stuttering. Therefore, most speech pathologists consider
stuttering behavior, when it occurs before age three, to be "normal childhood
dysfluency" rather than Stuttering. Cluttering is distinguished from Stuttering by a
rapid rate of speech, severe impairment of speech intelligibility, and lack of
awareness of the disturbance. Spastic dysphonia, a speech disorder similar to
Stuttering, is distinguished from the latter by the presence of an abnormal pattern
of breathing.
(Diagnostic Criteria for Stuttering)
Frequent repetitions or prolongations of sounds or syllables that markedly
impair the fluency of speech.
OTHER DISORDERS OF INFANCY. CHILDHOOD, OR ADOLESCENCE
Elective Mutism
The essential feature of this disorder is persistent refusal to talk in one or more
major social situations, including school, despite ability to comprehend spoken
language and to speak. The refusal to talk is not a symptom of Social Phobia,
Major Depression, or a psychotic disorder, such as Schizophrenia.
The child with Elective Mutism may communicate via gestures, by nodding or
shaking the head, or, in some cases, by monosyllabic or short, monotone
utterances. Most commonly the child will not speak at school, but will talk
normally within the home. Less commonly the child refuses to speak in nearly all
social situations.
Children with this disorder generally have normal language skills, though
some have delayed language development and abnormalities of articulation.
Associated features. Speech disorders may be present, such as
Developmental Articulation Disorder, Developmental Expressive or Receptive
Language Disorder, or a physical disorder that causes abnormalities of
articulation. Excessive shyness, social isolation and withdrawal, clinging, school
refusal, compulsive traits, negativism, temper tantrums, or other controlling or
oppositional behavior, particularly at home, may be observed.
Age at onset. Although onset is usually before age five, the disturbance may
come to clinical attention only with entry into school.
Course. In most cases the disturbance lasts only a few weeks or
months; in a few, it continues for several years.
Impairment. There may be severe impairment in social and school
functioning.
Complications. School failure and teasing or scapegoating by peers are
common complications.
Predisposing factors. Maternal overprotection, Language and Speech
Disorders, Mental Retardation, immigration, and hospitalization or trauma
before age three may predispose to Elective Mutism.
Prevalence. The disorder is apparently rare; it is found in fewer than 1 % of
child-guidance, clinical, and school-social-casework referrals
Sex ratio. The disorder is slightly more common in females than in
males.
Familial pattern. No information.
Differential diagnosis. In Severe or Profound Mental Retardation,
Pervasive Developmental Disorder, and Developmental Expressive
Language Disorder, there may be inability to speak, but not a refusal to do so.
Children in families who have emigrated to a country of a different language
may refuse to speak the new language. When comprehension of the new
language is adequate but the refusal to speak persists Elective Mutism should be
diagnosed.
(Diagnostic Criteria for Elective Mutism)
A. Persistent refusal to talk in one or more major social situations (including at
school).
B. Ability to comprehend spoken language and to speak.
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