Clin Genet 2000: 57: 459–461
Printed in Ireland. All rights reser6ed
Letter to the Editor
Psychomotor development in Cri du Chat
Syndrome
To the Editor:
Cri du Chat Syndrome (CdCS) is a partial aneu-
somy resulting from a deletion of the short arm of
chromosome 5. Clinical features include specific
dysmorphisms, a cat-like cry, microcephaly and
severe psychomotor retardation (1, 2). Little has
been reported regarding the assessment of psycho-
motor development in children with CdCS (2–6).
This is principally due to the rarity of this syn-
drome (1:50000 live births) (2). In addition, the
available data on psychomotor development are
not always comparable because of the different
methods used or the limited number of develop-
ment milestones examined.
Breg et al. (3) in a study of 13 institutionalized
adolescent and adult patients found an IQB20 in
all individuals. None of the 34 Danish probands
studied by Niebuhr (2) had a mental age of more
than a 3-year-old child. An improved prognosis
was reported in later studies. Data collected by
Wilkins et al. (4) on 65 home-reared patients who
were given special education, evaluated with
Vineland Social Maturity Scale and Denver Test,
suggested that many children could have attained
the social and psychomotor level of a normal 5–6-
year-old child. This observation was confirmed by
Carlin (5) in 62 home-reared CdCS individuals who
had been the subject of precocious consistent edu-
cational intervention. Cornish and Pigram (6), in a
study on 27 CdCS children using the Society for the
Study of Behavioural Phenotypes questionnaire,
found that the majority of them had acquired some
degree of mobility, dexterity and communication
skills, which also suggested that the syndrome
might be viewed in a more optimistic light in newly
diagnosed cases.
In recent years, parent-support groups have pro-
vided an opportunity to collect and study a large
series of children or young adults. There are several
reasons for studying the development of children
with CdCS. The first objective is to give parents a
more accurate prognosis about psychomotor devel-
opment, especially in the early period of life, after
the diagnosis of CdCS has been made. The second
goal is to provide pediatricians, general practi-
tioners and other professionals with a more accu-
rate delineation of psychomotor skills. The third
purpose is to offer support to the families in coping
with a severe mentally handicapped child.
With the support of the Italian Cri du Chat
Children Association a questionnaire was sent to 86
families in the Italian register (7–9). A total of 84
answered the questionnaire which included items
concerning demographics, birth data, growth, clini-
cal features of the syndrome, illness, hospitaliza-
tions and a separate section on psychomotor
development. The questions on development con-
sisted of a list of items based on the Denver Devel-
opmental Screening Test II (10). The Denver Test
II was used because it is a quick multidomain
screen with good sensitivity and specificity, is
widely accepted by pediatricians (11, 12) and has
been already used for the evaluation of develop-
mental delay in other multiple congenital anomaly/
mental retardation syndromes (13). Moreover, the
calculation in percentiles allows a rapid comparison
of the development of the relevant patient with that
of a large group of CdCS children and with the
normal child population as well.
The parents were asked to state at what age their
child achieved each milestone. Not all the items
were answered. When a question was not answered
or when the parents could not exactly remember
the age at which the milestone was achieved, the
case was excluded from the data set of the specific
skill. Only one questionnaire was filled in for each
patient. Percentiles were obtained based on the
number of persons having mastered the skill. The
age range of achieving the milestone was recorded
in block form for 95% of persons and divided into
25, 50 and 75% completion. The number of individ-
uals varied for each skill and is recorded in paren-
theses. No fewer than 30 patients were included for
each of the 25 items from each of the 4 main areas
of development (gross motor, fine motor, speech
and personal/social). The skills with less than 30
cases were not included in the chart (Fig. 1). Acqui-
sition of new skills occurred from 2 months to 16
years of age. No previously achieved milestone was
lost. Data were compared with 90% of normal
children (10).
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Letter to the Editor

Fig. 1. Developmental chart for patients with CdCS comparing ages of completion of milestones. Number of individuals on whom each range is based (n) is shown after each skill (14,
15).

Ages at the time of developmental assessment
ranged from 9 months to 34 years (median 7 years
and 9 months). Sixteen cases were born before 31
December 1980, 30 between 1 January 1981 and 31
December 1990, and 54 thereafter. All the patients
were reared in the family. Seven of 84 were B 2 years
old when the parents filled in the developmental
questionnaire and were too young to have mastered
some of the skills, so they were excluded. Cytoge-
netic analysis was available for all patients: 67 cases
showed 5p terminal deletion, 7 interstitial deletion,
3 mosaicism and 7 5/autosome translocation.
Principal limitations of this retrospective study
include the fact that children were living in different
socio-demographic environments over different pe-
riods of time, and possible recall bias. In spite of
these limitations, this data set has value in under-
standing the developmental progression of individu-
als with CdCS. Although these persons were
functioning in the severe developmentally handi-
capped range, as compared with normal ones, they
did achieve many skills in childhood and continue
to learn.
Developmental achievements should be evaluated
in larger cohorts of CdCS children in order to
provide more accurate prognosis for families and
specific guidelines about rehabilitative interventions
for health professionals.
Paola Cerruti Mainardi
Andrea Guala
Guido Pastore
Gloria Pozzo
Franca Dagna Bricarelli
Mauro Pierluigi
Acknowledgements
This work was supported by grants from Telethon Italia (E
511 and C 34). We thank the Italian Cri du Chat Children
Association for supporting this work.
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Letter to the Editor
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Correspondence:
Paola Cerruti Mainardi
Divisione di Pediatria e Servizio di Genetica
Ospedale S. Andrea
Corso M Abbiate 21
13100 Vercelli
Italy
Tel: +39 0161 593451
Fax: +39 0161 593501
E-mail: pcerutti@net4u.it
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