Behavioral and cognitive features . . .
Children with Dubowitz syndrome are shy, loving, unassuming, and kind. However,
extreme hyperactivity and tantrums are frequently mentioned by parents and in the
medical literature. Majewski et al. [51] describe a patient: "The most striking
finding was a general hyperactivity causing the mother to have difficulties in
handling the baby." Of another patient the authors write, "He was so hyperactive
that the mother had difficulties in managing him." Wilhem and Mehes [1] describe
the behavior as "high-grade hyperactivity," and Opitz et al. [52] describe it
as "barely manageable." Summarizing the behavior of four patients, Wilhelm
and Mehes [1] write that "their behavioral problems were serious in each case . . .
[and] seem to be a remarkable characteristic of the syndrome." Based on the
first 13 reported cases, Wilroy et al. (1978) [8] report that 40% demonstrated
significant hyperactivity.
It has been well documented that behavior problems and hyperactivity are
extremely common in the syndrome; however, studies exploring the fundamental
cause of the behavior problems and/or management strategies have not yet been
conducted.
However, some parents, after observing their child's apparent helplessness to
stop their own tantrums, question whether the unusual length and intensity of
the tantrums might be an indication that the child has a diminished ability to
self-calm once composure is lost. Tactile pressure, such as hugging, brushing,
or the use of commercial weighted vests or blankets, has in some cases been
successful in helping the child to calm and regain composure.
It is encouraging for parents of young children to learn that in most cases
the behavior problems common in Dubowitz syndrome improve significantly as
the child approaches puberty.
Although not mentioned in the literature, the results of psychological testing,
and the observations of some parents, have been that some children with
Dubowitz syndrome are "concrete thinkers." By definition, "concrete thinkers"
have difficulty with mental tasks requiring imagination. This difficulty is
observable in the quality of a child's play; for example, a child may have trouble
playing with toys in an imaginative way, or difficulty participating in role-play.
The child may engage in stereotypic or repetitive play activities, or play with
toys as objects (e.g., lining up or making visual arrangements with dolls
or other toys rather than engaging in symbolic or pretend play). Difficulty
using ones imagination may also lead to a "fear of change"--the child's sense
of security may be threatened by change because he cannot "imagine" that which
is unknown to him. In older children, concrete thinking may cause problems in social
functioning--the child may have difficulty understanding (imagining) the thinking
or frame of mind of another person.
Language delay, both receptive and expressive, is frequently reported in the
literature. Receptive language is usually more severely impaired than expressive.
Receptive language impairment is present in patients with normal cognitive ability
as well, and can hinder the child's ability to learn and function in a typical
fast-paced classroom. Speech therapy is helpful in addressing speech and language
problems in general, and strategies developed for central auditory processing disorder
may help to circumvent receptive language deficits.
The combination of expressive and receptive language impairment, extreme shyness,
social skill deficits, concrete thinking, fear of change, and stereotypic and
repetitive play may result in an overall behavioral pattern similar to that
described by the diagnostic criteria for the pervasive developmental disorders
(also referred to as autistic spectrum disorders). In fact, many children with
Dubowitz syndrome have also received a behavioral diagnosis of PDD or atypical
autism. It is important to remember that autism and PDD are psychological
diagnoses. While such a diagnosis may accurately describe the child's behavior,
it does not speak to the fundamental cause of the child's disability. A
psychological or behavioral label is considered a secondary diagnosis in a
child with Dubowitz syndrome. The primary diagnosis is Dubowitz syndrome
because the underlying cause for all the child's manifestations, including the
psychological features, is the Dubowitz gene.
Some degree of intellectual impairment is usually present. Although the
majority of patients function in the borderline range, cognitive levels from
profound mental retardation to normal ability have been reported.
In the early literature many authors commented on the relatively high
cognitive ability of patients with the syndrome. Opitz et al. (1973) [52]
write, "To us the most remarkable feature of this syndrome is the degree
of mental ability these patients can attain in spite of a head circumference
which falls significantly below the second percentile." Wilroy et al. [8]
agreed in 1978: "The ultimate intellectual performance of children with the
Dubowitz syndrome has yet to be determined. Their microcephaly is of
such a degree that severe mental retardation might be anticipated. However,
this has not been the case since the patients usually appear to be mentally
normal or at worst, mildly retarded."
Three years later, Wilroy, in collaboration with Parrish, published the results
of a psychological study of ten Dubowitz syndrome patients (Parrish and Wilroy
1980 [5]), and revised his previous opinion in light of the new data: "Actually,
individual standardized measures of intelligence indicate a greater degree of
variability in intellectual functioning than expected. Among the ten children
tested . . . the level of ntellectual functioning ranged from severe retardation
to average intelligence. Indeed, one-half of the children had low average or
average intelligence. There appears to be no relationship between birth weight
and chronological age and level of intelligence."
The results of this study also revealed that receptive language was
significantly impaired in 80% of the patients. Fine motor development was
impaired in 70%, followed by expressive vocabulary (60%), reasoning (50%),
and memory deficits (40%).
Parrish and Wilroy conclude, "Because only two children in the sample were of
sufficient age or ability level to complete a brief academic achievement test,
it is premature to present any conclusions regarding how children with Dubowitz
syndrome fare academically." They recommend further study using a larger
sample of children to investigate "whether the distribution of behavioral
deficits exhibited is syndrome-specific or is a function of level of mental
retardation found across syndromes."
Moller et al. (1985) [30] also mention that the degree of microcephaly
does not correlate with the degree of mental retardation--a point illustrated
by the patient of Lyonnet et al. (1992) [32] who, though having mild to
moderate mental retardation, was one of the exceptional Dubowitz patients
not exhibiting microcephaly (head circumference > 50%).
Other discussions of behavior and cognitive ability include the article by
Ilynina and Lurie (1990) [9], presenting 21 cases from Belarus and other
former Soviet republics. The authors write, "Severe mental deficiency is
rare, whereas somewhat abnormal behavior is rather common (70.7% of cases)
and is manifested by hyperactivity, short attention span, and emotional lability
sometimes accompanied by aggressiveness. The opposite manifestations were
noted only in two of our patients." In their 1996 review, Tsukarhara and
Opitz [11] determined that in a group of patients with psychomotor retardation,
35 showed normal intelligence, 46 mild mental retardation, 13 moderate mental
retardation, and 9 severe mental retardation.
Gross motor milestones (sitting, crawling, walking,) are usually achieved
slightly later than average. On the other hand, fine motor skills are often
significantly delayed. Even those with higher cognitive ability were reported
to show significant delay in self-help skills. In addition to reduced hand
strength, one child demonstrated impaired tactile sensory perception of the
hands and fingers revealed by a standardized occupational therapy test involving
the identification of unseen objects through touch. Occupational therapy is helpful
for children with fine motor problems and gross motor functioning can be addressed
through physical therapy.
