Applied Neuropsychology

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Russell-Silver Syndrome and Nonverbal Learning

Disability: A Case Study

Cynthia A. Plotts & Christina L. Livermore

To cite this article: Cynthia A. Plotts & Christina L. Livermore (2007) Russell-Silver Syndrome
and Nonverbal Learning Disability: A Case Study, Applied Neuropsychology, 14:2, 124-134, DOI:
10.1080/09084280701322684

To link to this article: https://doi.org/10.1080/09084280701322684

Published online: 05 Dec 2007.

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Applied Neuropsychology Copyright # 2007 by
2007, Vol. 14, No. 2, 124–134 Lawrence Erlbaum Associates, Inc.

GRAND ROUNDS

Russell-Silver Syndrome and Nonverbal

Learning Disability: A Case Study
Cynthia A. Plotts and Christina L. Livermore
Texas State University–San Marcos, San Marcos, Texas, USA

Russell-Silver Syndrome (RSS) is a rare genetic developmental disorder characterized

by prenatal and postnatal growth delays and other physical abnormalities. Neuro-
psychological screening was completed with LP, a 20-year-old college male diagnosed
at one year of age with Russell-Silver Syndrome. LP’s history and test findings yielded
a profile consistent with a nonverbal learning disability, with significantly higher verbal
compared to nonverbal intelligence, deficient visual-spatial memory, fine motor coordi-
nation and motor planning problems, relatively greater difficulty in math compared to
other achievement areas, decreased writing fluency, and social behavior impediments.
LP also experienced attention and concentration problems along with a ruminative cogni-
tive-emotional style and mild depression. His pattern of processing weaknesses indicated a
need for academic accommodations to complete his college-level academic work, along
with counseling to address emotional issues. Further studies of individuals with RSS should
consider neuropsychological assessment to address patterns of cognitive processing and
possible need for educational and psychosocial intervention.

Key words: neuropsychological, nonverbal learning disabilities, Russell-Silver Syndrome

Russell-Silver Syndrome (RSS), also known as
Silver-Russell Syndrome, is a rare genetic disorder
characterized by growth delays before and after
birth, and overgrowth of one side of the body
(hemihypertrophy or asymmetry), along with other
characteristics that vary widely across reported
cases. Most cases of RSS appear to be the result
of de novo, randomly-occurring genetic mutations.
Current research suggests that the mutation may be
inherited as an autosomal dominant genetic trait;
in rare cases, RSS may be inherited as an autoso-
mal recessive genetic trait or as an X-linked domi-
Address correspondence to Cynthia A. Plotts, Texas State
University–San Marcos, 601 University Drive, San Marcos,
TX 78666. E-mail: cp11@txstate.edu
nant genetic trait (National Organization for Rare
Disorders [NORD], 2003). Maternal uniparental
disomy for chromosome 7 appears to account for
7–10% of individuals with RSS; thus, molecular
genetic testing can be useful in confirming the diag-
nosis for individuals with this etiology for the
disorder. However, for most individuals with RSS,
there is no identifiable etiology for the condition
and genetic heterogeneity is generally accepted. In
this sense, RSS represents a phenotype rather than
a specific disorder, with diagnosis primarily based
upon identification of consistent clinical features
(Saal, 2004).
Although there are numerous reports of indivi-
duals, both males and females, with RSS in medical
journals from the 1960s onward (Silver, 1964;

124
 RUSSELL-SILVER SYNDROME AND NONVERBAL LEARNING DISABILITY
Tanner, Lejarrage, & Cameron, 1975; Patton, 1988;
Eggermann, et al., 1997 ), there is a paucity of
literature describing neuropsychological function-
ing in individuals with this disorder. The few pub-
lished reports of cognitive and academic
functioning among individuals with RSS (Lai,
Skuse, Stanhope, & Hindmarsh, 1994; Price, Stan-
hope, Garrett, Preece, & Trembath, 1999) suggest
variable cognitive abilities and possible need for
special education. Significant risk of motor and cog-
nitive developmental delay is associated with RSS
(Prakash-Cheng & McGovern, 2003) and attention-
deficit disorders have been observed (Cowger, 2002;
Harbison, 2004). No prior cases of RSS associated
with nonverbal learning disability (NLD) were found
in a review of the literature.
Russell-Silver Syndrome
Typical features of RSS recognizable at birth
include low birth weight and reduced body length,
triangular-shaped face, and scaphocephaly with nor-
mal head circumference. Birth weight and postnatal
growth of affected individuals are typically two or
more standard deviations below the mean (Saal,
2004). Postnatally, growth retardation and poor
appetite are observed. While the phenotype presen-
tation is reportedly varied (Price et al., 1999), other
common features include fifth-finger clinodactyly;
asymmetry of arms, legs, body, or head; late closure
of the anterior fontanel; and small, crowded teeth.
Less common features include abnormal ears (may
be low-set, small, or prominent), syndactyly of toes,
weak muscle tone, abnormalities of the kidney or
urinary tract, hydrocephalus, chronic ear infections,
and precocious puberty (Lahroud, 2003; NORD,
2003). Common gastrointestinal disorders include
gastroesophageal reflux disease, esophagitis, food
aversion, and failure to thrive. While growth velo-
city is normal and growth hormone levels are usually
normal, affected individuals do not achieve normal
stature even with administration of human growth
hormone. The average adult height of males with
RSS is 150 cm, while the average adult height of
affected females 139 cm (Saal, 2004). Males and
females are equally affected in the more than 400
cases that have been reported in the international
literature. Incidence estimates range from 1 in
3,000 to 1 in 100,000 (Prakash-Cheng & McGovern,
2003); heterogeneity in phenotype and apparently
variable etiology account for the wide range in inci-
dence estimates (Harbison, 2004).
Currently, there is no specific laboratory test for
the diagnosis of RSS (Saal, 2004). Initial reports
suggested that RSS was not a genetic disorder
because it rarely recurred within families, and when
it did recur, the transmission pattern did not follow
a consistent mode of inheritance. More recent
research suggests that RSS is a genetic syndrome
with complex and variable etiology. Differential
diagnosis of RSS involves ruling out numerous
other conditions that can cause intrauterine and
postnatal growth retardation and a geneticist will
typically be consulted to confirm or rule out the
diagnosis. Cytogenetic studies are recommended
to rule out chromosome abnormalities with
phenotypes similar to RSS. Studies of specific indi-
viduals with RSS have found abnormalities of
chromosome 17, chromosome 7, chromosome 1,
and chromosome X, thus illustrating the genetic
heterogeneity of this syndrome (McCusick, 2006).
While there appear to be multiple etiologies for
RSS, about 10% of affected individuals will have
uniparental disomy for chromosome 7 (UPD7). Con-
firmatory testing involves analysis of polymorphic
markers on chromosome 7 of the affected individual
and his or her parents. Some cases of RSS having
UPD7 may involve the inheritance of two copies
of maternal chromosome 7, with no paternal con-
tribution (Prakash-Cheng & McGovern, 2003).
Structural abnormalities of chromosome 7 have also
been described, suggesting the possibility that
chromosome rearrangement could disrupt the
balance of imprinted genes, contribute to a recessive
version of RSS, or lead to haploinsufficiency of a
critical developmental gene product.
Nakabayashi et al. (2002) tested 77 families with
an individual having RSS and identified three new
cases of maternal UPD7. They also described two
of their RSS patients as having de novo cytogenetic
abnormalities involving the short arm of chromo-
some 7. Fluorescence in situ hybridization (FISH)
mapping revealed breakpoints of chromosome 7
were localized to the same novel gene. Animal
studies indicate that in the mouse, and presumably
in the human as well, the gene encoding growth fac-
tor receptor-bound protein 10 (GRB10) is involved
in the growth-promoting activities of insulin and
insulin-like growth factors. The mouse GRB10
gene is located on proximal chromosome 11, while
the human GRB10 gene is located on chromosome
7. Because of the association with prenatal growth
promotion or growth retardation in mice with
maternal or paternal duplication of chromosome
125
 PLOTTS & LIVERMORE
11, the GRB10 gene is considered a candidate gene
for RSS; however, other researchers cited by
McCusick (2006) have reported inconsistent find-
ings related to GRB10 and RSS. At this point,
no specific gene or chromosomal abnormality
accounts for RSS.
No known genotype-phenotype correlations
have been identified for RSS, with individuals hav-
ing UPD7 not manifesting clinical features distinct
from other etiologies. Some individuals with RSS
have a severe phenotype, characterized by the
presence of many associated traits, while others
have a mild phenotype (Harbison, 2004). Most
often, RSS occurs in a single individual within a
family (simplex cases). Pregnancies are not usually
identified to be at increased risk for RSS, since
most occurrences of this condition represent
simplex cases. When intrauterine growth retardation
is identified by fetal ultrasonography, prenatal
testing for UPD7 is available. However, intrauterine
growth retardation is typically not reliable until the
third trimester of pregnancy, thus limiting the
options for prenatal diagnosis (Saal, 2004).
A pediatric endocrinologist and other medical
specialists may perform assessments of physical
abnormalities requiring treatment. Medical treat-
ments for RSS may include diet changes to address
hypoglycemia, a feeding pump to increase caloric
intake, Periactin (an antihistamine) as an appetite
stimulant, recombinant growth hormone, ear-tubes
to improve fluid drainage from ears, and Lupron
to delay puberty. Shoe lifts or limb lengthening
surgery may be needed to correct asymmetries.
Corrective surgeries may be needed for various
other physical abnormalities (Cowger, 2002).
According to Cowger, other treatments that may
be recommended include speech therapy, physical
and=or occupational therapy, and remediation of
academic difficulties.
Russell-Silver Syndrome and Learning Disabilities
While learning disabilities, attention deficit
disorders, and other cognitive and developmental
problems are noted in discussions of RSS
(Harbison, 2004), most of the relevant literature
does not address evaluation or intervention beyond
medical treatment for physical symptoms. Price
et al. (1999) reported medical findings in 50 patients
diagnosed with probable or definite RSS. They
reported that in the 38 individuals of school age,
14 had been considered for special education and
126
four attended special schools. Only one case report
of neuropsychological functioning in an individual
with RSS was found in a search of the literature
(Schlegel, Arcona, Morgan, & Hatt, 2000): an
8-year-old male child presented with a pattern of
diffuse deficits, with a unique pattern of language
and memory impairment in the context of generally
limited intellectual ability. This child was a twin
born at 30 weeks of gestation (the other twin
expired prior to delivery), weighed less than 2
pounds at birth, and required resuscitation, intu-
bation, and hospitalization for an additional 3
months. The findings reported by Schlegel et al.
(2000) may reflect impairments secondary to pre-
natal or perinatal complications in addition to the
diagnosed RSS.
Lai et al. (1994) conducted a study of cognitive
functioning in 25 children diagnosed with RSS.
Intellectual functioning was measured by the
Wechsler Intelligence Scale for Children—Third
Edition (WISC-III [Wechsler, 1991]). The Full-
Scale Intelligence Quotient (FSIQ) was in the aver-
age range for 36% of the sample, while 12% scored
in the above-average range, 20% in the borderline
range, and 32% in the deficient range. The children
in this group also exhibited delays in both reading
and arithmetic skills, with reading more delayed.
The range and severity of symptoms in persons
diagnosed with RSS varies considerably, and the
long-term implications depend upon symptom
expression. The early years may be the most diffi-
cult for individuals affected by RSS due to poor
eating, developmental delays, weak muscle tone,
and physical abnormalities requiring medical inter-
vention or surgery. Typically, the triangular-shaped
face will lessen, appetite and motor coordination
will increase, and speech will become clearer over
time (Cowger, 2002). Little information was found
in the literature regarding long-term implications
for cognitive, academic, and social development.
No specific links between RSS and nonverbal
learning disabilities have been identified in pub-
lished reports. Rourke (1989, 1995) described
NLD as a syndrome characterized by verbal assets,
including excellent phonological and rote memory
skills, contrasted with nonverbal deficits, including
bilateral tactile perception problems, deficient dis-
crimination and recognition of visual detail and
visual relationships, bilateral motor coordination
problems, and difficulty processing novel material.
NLD is thought to result from early cerebral insult
affecting the white matter of the brain. The impact
 RUSSELL-SILVER SYNDROME AND NONVERBAL LEARNING DISABILITY
of such insult is believed to impact right hemisphere
functions more than left hemisphere functions
because of the greater density of white matter in
the right hemisphere. Tactile perception and motor
coordination problems are expected to be more
pronounced on the left body side. Rourke (1995)
postulated that any set of circumstances that sig-
nificantly disrupts the function of right hemisphere
systems would be expected to produce the NLD
syndrome. Expression of associated symptoms
would presumably increase according to the degree
of white matter that is dysfunctional or destroyed.
In addition to these core features of NLD
syndrome, associated features may include arith-
metic and writing deficits, subtle language problems,
social relationship deficits, and internalizing
emotional features such as depression and anxiety.
Difficulties in social perception, social judgment,
and social interaction skills may increase over time,
associated with difficulty adapting to novel situa-
tions. Memory for nonverbal material is usually
weak unless the material to be recalled is readily
coded verbally. Auditory perception, sustained and
selective attention for auditory-verbal information,
word reading, spelling, and simple motor skills are
usually intact (Rourke, 1989, 1995; Anderson,
Northam, Hendy, & Wrennall, 2001). In their dis-
cussion of a case study of a child with NLD, Ander-
son et al. (2001) observe that children with NLD may
experience increasing academic and social difficulties
throughout childhood and into adolescence, but
because of their relatively intact language skills,
may not be identified as needing neuropsychological
assessment during childhood. According to Rourke
(1995), these children may, in fact, come to the atten-
tion of assessment professionals because of social
and emotional difficulties. In these cases, the NLD
pattern of neuropsychological function may or may
not be recognized.
While RSS is not addressed in his seminal work
on NLD, Rourke (1995) includes discussion of
other genetic disorders associated with features of
NLD, including Turner’s Syndrome (TS), Williams
Syndrome, and Sotos Syndrome, among others.
Functional specialization is commonly altered in
genetic syndromes, typically affecting lower-end
cognitive processes (Karmiloff-Smith, 1998). In this
regard, an array of genetic disorders may be char-
acterized by a global redistribution of functioning
in the brain. When case studies are interpreted
from the perspective of routinely assumed
functional specialization, this redistribution may
result in patterns of strengths and weaknesses in
neuropsychological functioning being attributed
to integrity of associated brain areas. Of interest
in this context is the NLD symptom pattern and
the frequency with which it emerges in case reports
of individuals with known genetic disorders when
neuropsychological assessment is completed.
While genetics may not be the sole grounds for
a disruption in nonverbal tasks, developmental
disturbances (as seen in RSS, TS and other genetic
disorders) may upset cognitive functioning,
especially lower-level processing such as abilities to
process visuospatial information and to integrate
components into a meaningful whole (Karmiloff-
Smith, 1998). Hepworth and Rovet (2000) noted
classic characteristics of a nonverbal learning
disability, including an overall weakness in visuos-
patial processing paired with intact verbal abilities
in a 9-year-old girl diagnosed with Turner’s Syn-
drome (TS), another genetic disorder characterized
by perturbed development.
The following case study describes findings from
a neuropsychological screening on an adult male
diagnosed at birth with RSS. The purpose of this
study is to contribute to the professional literature
regarding neuropsychological functioning in indivi-
duals with RSS and to add information regarding
functioning in young adulthood, since other
reports have focused on childhood features. In
addition to LP’s self-report, the biological parents
provided medical, academic, and social history.
METHOD
Case Descriptionn
LP was 20 years, 4 months at the time of the
present assessment. His parents referred him for
assessment to determine if learning disabilities were
interfering with academic performance in college.
They had not sought prior psychoeducational,
neuropsychological, or psychiatric assessment
because LP had performed adequately in school
and such testing had not been recommended by
medical or education professionals.
LP was the third of three children born to the
same parents. He weighed 3 pounds, 11 ounces at
birth following a normal, full-term pregnancy. LP
was diagnosed with RSS one year after birth when
he was examined by a pediatric endocrinologist
because of his small size and limited appetite.
127
 PLOTTS & LIVERMORE
His mother recalled being informed at the time that
no definitive tests for RSS were available and that
the diagnosis was based on clinical features rather
than on genetic testing; therefore, no genetic assays
were completed. His diagnosis, medical care, and
follow-up were provided primarily by a pediatric
endocrinologist. LP’s clinical features included
triangular facies, minimal appetite, and lack of
expected growth, along with his low birth weight
as noted above. Head circumference was normal
throughout childhood and there was no syndactyly
or hemihypertrophy. During early childhood, he
was diagnosed with scoliosis by a pediatric ortho-
pedist and prescribed a back brace for 3 years. LP
showed developmental delays in walking and talk-
ing and participated in an infant-parent program
to address these delays. By age 3, LP was reading
and telling time and could incidentally memorize
information such as license plate numbers. Physi-
cally, he exhibited small, crowded teeth and a
high-pitched voice, but these features, along with
the triangular face shape, became less apparent as
LP matured. Based on parent and self-report,
LP’s phenotype appeared to be mild compared to
other children with RSS.
During childhood, LP was prescribed a growth
hormone to enhance height, and Lupron to delay
the early onset of puberty. Both of these treatments
were discontinued by age 12. LP reported taking
no prescription medications on a regular basis and
was taking no medications during the current
assessment. At the time of the assessment, he was
5 ft, 1 in tall. Motor coordination and planning were
described by the parents and the subject as areas of
weakness throughout development and into adult-
hood, particularly when coordinated multiple move-
ments were required. This individual was prescribed
corrective glasses for nearsightedness at age 8.
Based on parent report and school records, LP’s
intellectual functioning appeared normal through-
out development. School history included kinder-
garten at a Montessori school where the structure
was perceived as inadequate for LP’s needs, fol-
lowed by public school attendance from first
through sixth grades. He began a public ‘‘magnet’’
school for high-achieving students in seventh
grade, but withdrew after 6 weeks because he felt
harassed about his small stature. He completed sev-
enth and eighth grades in a private school, followed
by completion of high school at a select liberal arts
program in the public school system. LP earned
primarily As and Bs in school. Subjectively, he
128
reported much more difficulty in math and in writ-
ing, although he passed all classes with average to
above-average performance in all subjects. Scholas-
tic Aptitude Test (SAT) results revealed higher
verbal than quantitative ability, with a Verbal Scale
standard score of 700 and a Mathematics Scale
standard score of 560. LP also reported difficulty
in producing written work in a timely fashion.
School report card notations revealed attention
problems reported by several teachers during
elementary school. His parents considered, but
did not pursue, assessment for attention-deficit
disorder during second grade. LP was not referred
for assessment for special education services by his
parents or teachers. His mother reported that LP
did ‘‘well enough’’ in school when he paid atten-
tion. During high school, he participated in individ-
ual counseling for 2 to 3 years to address negative
self-evaluation and his self-described obsessive
thoughts, which he perceived as interfering with
academic performance and emotional adjustment.
At the time of this screening, LP was attending a
small private college where he was majoring in
history. He had been placed on academic warning
status after failing one class. He reported particular
difficulties completing writing assignments within
the expected time frame. LP also stated that when
he experienced difficulty in a course, he reacted
with feelings of worry and helplessness and avoided
attending class or turning in work. He self-referred
for counseling for stress management while at
college. LP’s parents and two older siblings are
college graduates who are professionally employed.
No other family members have been diagnosed
with RSS or any major medical, psychological, or
psychiatric disorders.
RESULTS
Neuropsychological Screening
LP underwent a neuropsychological screening
over a two-day period. Tasks were selected to
assess abilities related to referral questions regard-
ing learning and attention problems, and included
measures of general intellectual ability, executive
functions, academic achievement, social-emotional
functioning, attention=concentration, cognitive
processing, and sensory-motor skills. Due to time
constraints (the subject was returning to college
out of state) and minimal information about LP’s
developmental history prior to the testing sessions,
 RUSSELL-SILVER SYNDROME AND NONVERBAL LEARNING DISABILITY

Table 1. Performance of Subject on the Wechsler Adult Intelligence Scale: 3rd Edition
Verbal IQ: 122, 93rd percentile
Performance IQ: 104, 61st percentile
Full Scale IQ: 114, 82nd percentile

Verbal Scale Subtests Scaled Score Performance Scale Subtests Scaled Score
Vocabulary 17 Picture Completion 11
Similarities 14 Digit Symbol-Coding 5
Arithmetic 11 Block Design 9
Digit Span 9 Matrix Reasoning 11
Information 15 Picture Arrangement 17
Comprehension 15 Symbol Search 7
Letter-Number Sequencing 10 – –

Index Scores
Verbal Comprehension Index: 131 (125–135, 98th percentile), very superior range
Perceptual Organization Index: 101 (95–107, 53rd percentile), average range
Working Memory Index: 99 (93–105, 47th percentile), average range
Processing Speed Index: 79 (74–89, 8th percentile), borderline range

Performance of Subject on the Woodcock-Johnson: Revised Editiona

Achievement Subtest Scaled Score Percentile Rank
Letter-Word Identification 138 99
Passage Comprehension 114 83
Calculation 97 43
Applied Problems 97 42
Dictation 101 53
Writing Samples 107 68
Writing Fluency 81 10
Composite Scores
Broad Reading 129 98
Broad Math 97 43
Broad Written Language 103 59
Written Expression 90 25

Results of Neuropsychological Evaluation

Sensory Perceptual Examination Score
Unilateral Errors
Tactile Hand (D, ND) 0, 0
Tactile Face (D, ND) 0, 0
Auditory (D, ND) 0, 0
Visual (D, ND) 0, 0
Suppression Errors
Tactile Hand (D, ND) 0, 2
Tactile Face (D, ND) 0, 2
Auditory (D, ND) 1, 0
Visual (D, ND) 2, 0
Total Errors (both hands) 7b
Finger Agnosia (errors, D, ND) 0=20, 3=20
Total Errors (both hands) 3
Finger Tip Writing (errors, D, ND) 6=20, 4=20
Total Errors (both hands) 10b
Motor Functions
Finger Tapping Test
Dominant Hand (average of 5 trials) 42

Nondominant Hand (average of 5 trials) 41

(Continued)

129
 PLOTTS & LIVERMORE

Table 1. Continued

Results of Neuropsychological Evaluation

Sensory Perceptual Examination Score
Visuomotor Ability
Bender-Gestalt Exam (errors, time) 1, 17 minb
WJ-R Cognitive Processing Speed Index (SS, %ile) 94, 35
WAIS-III Processing Speed Index (SS, %ile) 79, 8b
Visual Memory
Benton Visual Retention Test (right=left errors) 7, 1b
Attention=Concentration
Attention Deficit Scales for Adults (T-score, %ile) 70, 98
Attention-Focus=Concentration (T-score, %ile) 81, 99
Interpersonal (T-score, %ile) 59, 84
Behavior- Disorganized Activity (T-score, %ile) 59, 84
Coordination (T-score, %ile) 64, 93
Academic Theme (T-score, %ile) 76, 99
Emotive (T-score, %ile) 68, 96
Consistency=Long Term (T-score, %ile) 53, 63
Childhood (T-score, %ile) 72, 98
Negative Social (T-score, %ile) 68, 96
Executive Functions
Wisconsin Card Sorting Test
Number of Categories Completed (raw, %ile) 6, >16
Trials to Complete First Category (raw, %ile) 13, 11–16
Failure to Maintain Set (raw, %ile) 0, >16
Total Errors (raw, %ile) 16, 68
Perseverative Responses (raw, %ile) 11, 58
Perseverative Errors (raw, %ile) 8, 75
Nonperseverative Errors (raw, %ile) 3, 86
Percent Conceptual Level Responses (%, %ile) 75, 53
Note. WAIS-III ¼ Wechsler Adult Intelligence Scale - 3rd Edition; WJ-R ¼ Woodcock-Johnson Psycho-Educational
Battery Revised; SS ¼ Scaled score; D ¼ Dominant; ND ¼ Nondominant; %ile ¼ Percentile Rank.
a
¼ Score compared to age norms.
b
¼ Below average for age.

the assessment results reflect limited neuropsych-
ological data. Information regarding memory,
language, and visual-perceptual abilities were lar-
gely gleaned from the results of the intellectual
and academic assessment and supplemented with
other brief neuropsychological measures. Table 1
shows the quantitative results of this evaluation
and should be referred to for specific scores.
General intellectual ability was measured in the
high average range on the Wechsler Adult Intelli-
gence Scale, Third Edition (WAIS-III [Wechsler,
1997]), with a Verbal IQ in the superior range
and Performance IQ in the average range. This dif-
ference between verbal and nonverbal abilities is
statistically significant and is underscored when the
index, or factor, scores are examined. LP achieved
a very superior verbal comprehension index score
and an average perceptual organization index score.
Working memory emerged as average, while the
processing speed index score fell in the borderline
range. Considerable scatter was noted among
subtests, with a range from well below-average on
Digit-Symbol Coding to very superior on Vocabu-
lary. Overall, LP showed superior verbal knowledge
and reasoning, with average short-term auditory
memory, average visual-perceptual abilities, and
below-average visual-motor processing speed.
Academic assessment on the Woodcock-Johnson
Tests of Academic Achievement-Revised (WJ-R
[Woodcock & Johnson, 1989]) indicated superior
reading skills, with word recognition stronger than
passage comprehension. Math skills were measured
in the average range, as were writing skills based
on evaluation of brief writing samples. While
punctuation and sentence structure were generally
accurate, sentence content was less complex than
required for higher scores. Writing fluency, which
is assessed by production of brief sentences from

130
 RUSSELL-SILVER SYNDROME AND NONVERBAL LEARNING DISABILITY
picture cues within a time limit and which measures
the ease and speed by which LP is able to write, was
low average. This lower score is consistent with the
weakness in processing speed noted on the WAIS-
III and meshes with LP’s report of difficulty
completing college writing assignments within the
expected time frame. During this screening, he
appeared impatient during writing tasks and his
handwriting became progressively worse. LP
explained that he feels ‘‘rushed’’ during writing tasks.
LP performed within the average range on the
Wisconsin Card Sorting Test (WCST [Heaton,
1993]), which is usually sensitive to problems in
executive functions, such as planning, flexibility,
and evaluating and profiting from feedback. No
problems emerged in these areas. His relatively
strong performance on the WCST is consistent
with his above-average intellectual abilities.
With regard to memory, LP showed average
performance on the working memory subtests of
the WAIS-III, all of which tap auditory attention
and short-term memory. Superior performance
was observed on the Information subtest of the
WAIS-III, which measures long-term verbal
memory. In contrast, he exhibited poor visual
memory for the number-symbol code presented
on the WAIS-III. A further comparison of verbal
with visual memory was made using the Benton
Visual Retention Test-5th Edition (Benton-Sivan,
1992), which required the drawing of geometric
designs from memory following a 10-second
exposure. In terms of both number of correct
reproductions and number of errors, LP scored in
the defective range compared to others of his age
and intelligence. This finding suggests that LP’s
verbal memory is much stronger than visual-spatial
memory, although a comprehensive memory bat-
tery would be needed to validate this impression.
Short-term auditory memory as measured by Digit
Span on the WAIS-III was weaker than long-term
memory for information, and may have been
lowered by distractibility. The pattern of stronger
verbal memory compared to visual-spatial memory
was consistent with the discrepancies noted between
Verbal and Performance IQs on the WAIS-III.
A brief sensory-perceptual exam from the
Halstead-Reitan Neuropsychological Test Battery
(HRNB [Reitan & Wolfson, 1985]) yielded normal
response to simple tactile stimulation bilaterally.
However, on double simultaneous stimulation, LP
made four errors on the left body side, which is
slightly outside the normal range. Auditory and
visual stimulation yielded normal responses bilater-
ally. Three finger recognition errors occurred on
the left hand, which is below normal expectancy.
LP also had bilateral difficulty with the HRNB’s
fingertip number writing, with more errors on the
right hand than on the left hand. Taken together,
these sensory findings suggest that LP has some
difficulty with sensory integration. Primarily, he
had difficulty identifying spatial and symbolic
information when perceived through the tactile
modality. When the stimulus became more com-
plex and required greater sensory integration
(e.g., fingertip number writing), this relative
weakness became more pronounced.
On the HRNB lateral dominance exam, right
hand, left foot and left eye dominance were
exhibited. On the finger tapping test (Reitan &
Wolfson, 1985), a measure of manual speed and
dexterity, LP performed slightly below average
compared to normal adults with his right hand
and at the lower end of average with his left hand.
LP was observed to have poor balance bilaterally
when standing alone for a brief period on either
the left or the right foot. Awkwardness was
observed bilaterally on rapid finger movements,
such as touching fingers to thumb. These findings
suggest that LP’s reduced visual-motor processing
speed may be associated with motor coordination,
dexterity and planning problems.
On the Bender Gestalt Visual Motor Test
(BGVM [Bender, 1938]), which requires copying of
nine geometric designs, LP made one error. He took
17 minutes to complete this test, much longer than is
typical for normal adults. These findings confirm a
relative weakness in visual-motor skills, consistent
with findings from the cognitive tests. His approach
on the BGVM was organized and compulsive, in
that he counted and recounted stimulus features in
order to complete them correctly.
Social/Emotional Functioning
LP and his parents reported a history of social
skills problems, including limited friendships in
childhood and continued difficulty initiating and
maintaining relationships in adolescence and
adulthood. LP described himself as feeling ‘‘on
the sidelines’’ socially, especially during his elemen-
tary school years. While he perceived himself as
having more success with friendships in college,
LP reported urges to talk continuously until inter-
rupted to cover any feelings of social awkwardness.
131
 PLOTTS & LIVERMORE
He reported particular interests in geography,
history, and current events, but until college had
difficulty finding friends with similar interests.
Results of the Beck Depression Inventory (Beck
& Steer, 1993) indicated a mild level of depression.
LP reported that he was self-critical, worried about
academic performance, and tended to ruminate
about problem situations. His self report did not
indicate problems with sleep or appetite. He
appeared to have a normal activity level and to
experience pleasure in various activities. Attention
problems were assessed using history recounted by
LP and his mother, along with the Attention Deficit
Scales for Adults (ADSA [Triolo & Murphy, 1996])
completed by LP. His history included difficulty
with attention and concentration in school when
subjects were difficult (e.g., mathematics) or boring
to him. Ongoing and current difficulties with
focusing, task completion, and concentration were
reported, although these problems seemed to be cir-
cumscribed around areas of chronic difficulty such
as when completing mathematics problems and
producing written work. He perceived himself as
prone to careless errors, disorganized in his appr-
oach to tasks, and avoidant of activities that involve
sustained mental effort. LP’s performance on tasks
sensitive to sustained auditory attention (e.g., work-
ing memory) appeared relatively weak compared
to his overall superior verbal abilities. No beha-
vioral patterns of impulsivity or disorganization in
response to test activities were observed. On the
ADSA, LP’s responses yielded a significant elev-
ation on the Attention-Focus=Concentration scale
(99th percentile). Significant elevations (above the
98th percentile) also emerged on scales reflecting
LP’s perceptions of social, emotional, and academic
difficulties.
DISCUSSION
The subject of this case study was diagnosed with
RSS at 1 year of age, based on clinical features
present at birth, along with poor appetite and
limited growth during his first year. While he partici-
pated in services for speech and motor delays
through an infant-parent program in early child-
hood, LP did not receive psychoeducational or neuro-
psychological screening until age 20 when he was
placed on academic warning status in college. Prior
to college, he performed at the average or above-
average level in school and evaluation for learning
132
or attention problems was not recommended by his
teachers or other professionals involved in his treat-
ment. LP’s developmental, academic, and psych-
osocial history suggests a pattern of achievement
consistent with mild nonverbal learning disability in
a generally high functioning individual. Neuro-
psychological screening results indicated high aver-
age general intelligence, with significantly stronger
verbal compared to nonverbal abilities. Reading
achievement, particularly for sight word recognition,
was significantly stronger than either mathematics or
writing skills, consistent with LP’s report of academic
performance throughout school.
Patterns in LP’s neuropsychological profile
suggested relatively weaker motor, sensory, and
visual-spatial memory skills. Problems in fine
motor coordination and motor planning were
evident upon observation and by history. Further,
LP exhibited reduced processing speed, both on
the processing speed subtests of the WAIS-III and
on the WJ-R subtest that measures writing fluency.
LP reported past and current social skills problems,
attention=concentration problems, and mild depres-
sion. These features are consistent with nonverbal
learning disabilities syndrome, which includes bilat-
eral tactile perception and motor deficits, impaired
visual-spatial organization and memory, relative
weaknesses in mathematics and writing fluency in
the face of superior verbal abilities, and social-
emotional difficulties (Rourke, 1989, 1995).
Compared to the previously discussed finding of
overall low average intellectual functioning in a
group with RSS reported by Lai et al. (1994),
LP’s intellectual functioning level was much higher.
The Lai et al. group data also revealed lower read-
ing than arithmetic achievement, in contrast to the
pattern observed in the current subject’s achieve-
ment profile. However, group data may have
masked significant within group differences. The
information currently available regarding neuro-
psychological functioning among individuals diag-
nosed with RSS is insufficient to allow for
generalizations. It has previously been observed
that the range and severity of physical symptoms
vary greatly among individuals with RSS (Cowger,
2002); it may be that such variability will be docu-
mented in neuropsychological functioning as well,
but further research is needed before conclusions
can be drawn. In LP’s case, his above-average
verbal intellectual abilities, combined with access to
highly structured and supportive academic settings
from elementary through high school, may have
 RUSSELL-SILVER SYNDROME AND NONVERBAL LEARNING DISABILITY
delayed recognition of the learning difficulties that
emerged during college. As noted by Anderson et al.
(2001), children with nonverbal learning disabilities
may not be identified as needing neuropsycho-
logical assessment during childhood because of
their relatively intact language skills.
Pelletier, Ahmad, and Rourke (2001) used a
system of rules based on cut-off scores on specific
neuropsychological tests to classify 207 children,
ages 9 to 15, as having either NLD or BPPD (basic
phonological processing disabilities). While other
subtypes of LD have been documented in the litera-
ture, Pelletier et al. investigated these two subtypes
in this study as a follow-up to prior research
indicating that NLD and BPPD are characterized
by distinct patterns of neuropsychological and
academic functioning. Within their two identified
groups, clear differences in patterns of psychosocial
functioning emerged. Children with NLD were
more likely than children with BPPD to exhibit a
pattern of psychosocial functioning suggestive of
internalizing forms of psychopathology.
As noted in the results of LP’s assessment, he
acknowledged feelings of depression, along with
excessive rumination and social unease. While
LP’s case study lends some support to the Pelletier
et al. (2001) findings regarding problems in psycho-
social functioning among children with NLD,
further replication of their findings with groups of
children is needed. A longitudinal approach would
be particularly valuable, to investigate not only
differential patterns of psychosocial functioning
across groups of children with disabilities, but also
to study changes across the lifespan in these
groups. Certainly, a valid, reliable, and systematic
framework for classifying children as NLD, as out-
lined in the set of rules used by Pelletier et al.
(2001), would allow for greater consistency in diag-
nosis of this syndrome. Reliable diagnosis is a
prerequisite for further studies of psychosocial,
intellectual, and academic functioning among
individuals with NLD.
Limitations of this case study include the delay
between diagnosis of RSS and completion of this
neuropsychological screening. Minimal recognition
or discussion of the association between RSS and
learning disabilities at the time of LP’s diagnosis,
combined with his generally adequate academic
performance, may have precluded referral for
neuropsychological evaluation. Professional eva-
luations focused primarily upon his medical status
and physical development. Documentation of
change in neuropsychological status across devel-
opment was not possible in this case and under-
scores the need for longitudinal study of
individuals diagnosed with RSS.
The circumscribed nature of the neuropsycho-
logical screening is a further limitation of this
study. Assessment techniques, while appropriate
for basic evaluation of learning disabilities, did
not allow for a full study of the neuropsychological
functioning of this individual. More comprehensive
neuropsychological evaluation was not completed
because the subject returned to college in another
state. Greater breadth and depth of information
regarding early medical symptoms and history,
attention, memory, executive functions, sensory
and motor abilities, and emotional functioning
would enhance the interpretation of findings in this
case. Nevertheless, this case study is of interest in that
the neuropsychological profile suggests the presence
of a nonverbal learning disability in an individual
diagnosed with RSS, an association that has not
previously been reported in published case reports.
The literature regarding RSS focuses primarily
on medical symptoms and interventions, with
minimal attention given to cognitive abilities and
academic and social development needs. Further
studies of individuals with RSS should consider
systematic neuropsychological assessment to evalu-
ate sensory and motor skills, patterns of cognitive
processing, and psychosocial adjustment. Increased
understanding of RSS as it affects the individual
throughout the life cycle is needed, particularly
with regard to need for specific school-based inter-
ventions, such as special education instruction,
speech therapy, occupational and physical therapy,
social skills training, and=or counseling.
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