Restricted Growth Associations, in the USA, Little People of
America, Inc,http://www.lpaonline.org). Assessments included
the criterion explicit tool, the Functional Independence Mea-
sure for Children (Wee FIMTM) and its domains of mobility,
What were the findings? First, children with short limbs
have challenges in transferring and climbing stairs that may
not be directly discovered by clinicians who assess upright
mobility on level surfaces.
Second, though children master basic hand function skills at
near distances with small objects and in using feeding utensils,
they struggle and need assistance in grooming, dressing, and
toileting. This is a direct consequence of the difficulty that
short limbs have in reaching the top of the head for hair
grooming, the toes for lower extremity dressing, and the
sacrum for toileting hygiene.
Third, although children are age appropriate in basic cogni-
tive skills, they continue to need parental supervision for many
tasks at kindergarten entry and at age 7. Some of this is a fail-
ure of thinking through accommodation strategies for task
completion and some is the need for explicit parental instruc-
tion on promoting age-appropriate self-care and community
Fourth, subtle delays in communicative challenges in chil-
dren of short stature and parental fears may lead to less adept
social skills between the ages of 5 and 7 years, a critical period
for beginning the tasks of developing friendships and partici-
pating in community activities.
Fifth, explicitly measuring criterion specific tasks in func-
tioning and children’s participation in developmentally appro-
priate roles helps us to understand the impact of body
structure on living with a difference and proactively monitor-
ing for secondary complications that often require both medi-
cal and environmental interventions.
What are the next steps? First, an explicit understanding of
required modifications is needed to facilitate self-care and
toileting skills. Second, the promotion of architectural modifi-
cations for negotiating the physical and recreational environ-
ment requires ongoing awareness and advocacy. Health
professionals should not only encourage appropriate recrea-
tional experiences, but also emphasize the importance of phys-
ical activity in order to optimize fitness and lessen the risk for
obesity. A useful resource is the Dwarf Athletic Association of
America (http://www.daaa.org). Third, families require expli-
cit ongoing counseling and support to promote age-appropri-
ate learning and social experiences. Critical to this approach is
to treat the individual child as a person with age- not stature-
appropriate expectations who will become adults. Fourth, sup-
port groups cannot only help parental caregivers but can allow
social networking so that children can become aware that they
are not the only ones with a genetic difference. In addition,
both children and parents can observe models of successful
older peers attaining higher education, working, and raising
children of their own.
With the increased awareness of opportunities in the per-
sonalized medicine of the new genetics and the enablement
perspective of the International Classification of Function-
ing (ICF) model, we can explicitly promote interventions
and strategies so that genetic differences in body structure
do not lead to missed opportunities to promote indepen-
dent functioning and participation among children and
1. Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V,
Le Merrer M. Achondroplasia: best practice and research.
Clin Rheum 2008; 22: 3–18.
2. Richette P, Bardin T, Stheneur C. Achondroplasia: from
genotype to phenotype. Joint Bone Spine 2008; 75: 125–30.
3. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet
2007; 370: 162–72.
4. Trotter TL, Hall JG, the Committee on Genetics. Clinical
report: health supervision for children with achondroplasia.
Pediatrics 2005; 116: 771–83.
5. Thompson NM, Hecht JT, Bohan TP, et al. Neuroanatomic
and neuropsychological outcome in school-age children with
achondroplasia. Am J Med Gen (Neuropsychiatr Genet) 1999;
6. Ireland P, McGill J, Zankl A, et al. Functional performance
in young Australian children with achondroplasia. Dev Med
Child Neurol 2011; 53: 944–50. DOI: 10.1111/j.1469-
The relationship between group A streptococcal infections and
DONALD L GILBERT
Cincinnati Children's Hospital Medical Center – Pediatric Neurology, Cincinnati, Ohio,
This commentary is on the original article by Martino et al. on pages
951–957 of this issue.
‘That the children of the present generation are having
their infected tonsils enucleated, will, we believe have a
definite influence on the elimination of systemic and
mental disorders later in life.’
H A Cotton, 19221
For decades, the lack of clear explanations of causes for
many ‘mental disorders’ has challenged scientists and clini-
cians, frustrated patients and families, and inspired both care-
ful research and outright quackery.
The brain, like other organs, is susceptible to relatively
rapid perturbations in homeostasis, triggered by external or
internal events. However, the triggering events and patho- Download full-text
physiological mechanisms are often unknown. Thus pervasive
environmental exposures such as infections or vaccinations
and internal mechanisms such as antibody production are
attractive as etiologies for unexplained disorders of brain func-
tion. An example of this is Sydenham chorea, where a proxi-
mate cause is systemic infection by group A beta-hemolytic
streptococcal (GAS) bacteria; a mediating event may be the
generation in serum of autoantibodies that bind to neuronal
cell surface antigens;2and the resulting brain perturbation
affects motor control. As subacute chorea in childhood is fairly
rare, and the vast majority of cases in published series show
serological and clinical evidence of antecedent GAS infection,
the causal chain in Sydenham chorea seems highly plausible,
despite gaps in understanding mechanisms of disease and host
Could similar mechanisms be involved in much more com-
mon childhood disorders such as Tourette syndrome, obses-
sive-compulsive disorder (OCD), or autism? Answering these
questions has proven to be epidemiologically and scientifically
much more arduous, because temporal associations of com-
mon exposures and diseases often occur by chance. A true ‘yes’
answer could have substantial public health implications. On
the other hand, a false ‘yes’ answer could lead to unnecessary
and costly diagnostic testing and widespread ineffective and
even harmful therapies.
Based on the model of Sydenham chorea, Pediatric Autoim-
mune Neuropsychiatric Disorders Associated with Strepto-
coccal infections (PANDAS) has been described as a condition
where, on two or more occasions in childhood, tics or OCD
symptoms begin and⁄or undergo repeated dramatic exacerba-
tions triggered by GAS infections.3Enthusiasm and parental
Internet research surrounding this diagnosis continue to result
in many referrals for specialty consultation. However, the
majority of prospectively obtained clinical data now suggest
that a GAS link to tics and OCD is probably not important
diagnostically or therapeutically in the vast majority of
First, at the community, school-based level, there are some
neurobehavioral changes which occur more commonly after
GAS infections.4However, these appear to be quite mild,
not florid cases of Tourette syndrome, OCD, or Sydenham
chorea. Second, at the general pediatric clinic level, neurobe-
havioral changes associated with GAS infections differ little
from changes associated with common viral infections.5
Third, at the specialty clinic level, even when PANDAS cases
are identified using strict research criteria, over subsequent
years most clinical exacerbations are unrelated to GAS infec-
tions,6,7and there is no correlation between changes in anti-
GAS antibody titers and neurobehavioral symptoms.8These
studies do not exclude an early childhood causal link; how-
ever, if Tourette syndrome and OCD are genetically and
environmentally pre-programmed in early childhood, GAS
infection may be one of any number of events capable of
Martino et al.9provide a significant new contribution to the
literature on GAS infection and tics. Their cross-sectional
case-control data, which support higher rates of prior GAS
infections in Tourette syndrome, raise questions about
increased exposures in early childhood. The longitudinal data,
with the addition of anti-basal ganglia antibodies, strengthen
the case against an ongoing GAS⁄Tourette syndrome link and
reinforce the earlier findings6–8that in Tourette syndrome,
anti-GAS titers (ASO, DNAseB) are not clinically useful.
‘Tonsil enucleation’ can be postponed as well.
1. Valenstein ES. Great and Desperate Cures: The Rise and
Decline of Psychosurgery and Other Radical Treatments for
Mental Illness. New York, NY: Harper Collins, 1987.
2. Brilot F, Merheb V, Ding A, Murphy T, Dale RC. Antibody
binding to neuronal surface in Sydenham chorea, but not in
3. Swedo SE, Leonard HL, Garvey M, et al. Pediatric autoim-
mune neuropsychiatric disorders associated with streptococcal
infections: clinical description of the first 50 cases. Am J Psy-
chiatry 1998; 155: 264–71.
4. Murphy TK, Snider LA, Mutch PJ, et al. Relationship of
movements and behaviors to group A streptococcus infections
in elementary school children. Biol Psychiatry 2007; 61:
5. Perrin EM, Murphy ML, Casey JR, et al. Does group A beta-
hemolytic streptococcal infection increase risk for behavioral
and neuropsychiatric symptoms in children? [See comment].
Arch Pediatr Adolesc Med 2004; 158: 848–56.
6. Leckman JF, King RA, Gilbert DL, et al. Streptococcal upper
respiratory tract infections and exacerbations of tic and obses-
sive-compulsive symptoms: a prospective longitudinal study.
J Am Acad Child Adolesc Psychiatry 2011; 50: 108–18.
7. Kurlan R, Johnson D, Kaplan EL. Streptococcal infection and
exacerbations of childhood tics and obsessive-compulsive
symptoms: a prospective blinded cohort study. Pediatrics 2008;
8. Singer HS, Gause C, Morris C, Lopez P. Serial immune mark-
ers do not correlate with clinical exacerbations in pediatric
streptococcal infections. Pediatrics 2008; 121: 1198–205.
9. Martino D, Chiarotti F, Buttiglione M, et al. The relationship
between group A streptococcal infections and Tourette
syndrome: a study on a large service-based cohort. Dev
Med Child Neurol. 2011; 53: 951–57 DOI 10.1111/j.1469-
Developmental Medicine & Child Neurology 2011, 53: 876–884