Screening of medical problems in adults with Down syndrome
Two-hundred and one adults with Down syndrome, living in the hospital and community, were assessed to ascertain prevalence of medical problems. Eighty-one percent of individuals examined were found to be overweight or obese (BMI >24), significant impaired vision was present in 18% and significant impaired hearing in 12%. A further 12% had a cardiac murmur and 15% of males had an undescended testis. Flat feet were found in the majority of subjects (70%) with xerosis in over a third of subjects (39%). A low heart rate and low blood pressure recordings were typical findings. A history of epilepsy was found in 8% of subjects. Particular concern needs to be given to obesity, sensory impairment and thyroid dysfunction and regular screening of all adults with Down syndrome is recommended.
Prasher VP. Screening of medical problems in adults with Down syndrome. Down Syndrome Research and Practice. 1994;2(2);59-66.
The health of people with Down syndrome has, until recently, been of low
priority. During the early part of this century admission of individuals
with Down syndrome to long stay institutions meant that these problems were
hidden away, out of sight and out of mind. With the recent increase in public
awareness and support from the Government and the publication of "The Health
of the Nation" document (Department
of Health, 1992), there is now the potential for change, and people
with Down syndrome may expect the same level of healthcare and quality of
life as the rest of the population.
Further, adults with Down syndrome are living longer than previously and
individuals surviving into their sixth or seventh decade of life are now
and Sadonivick, 1988;
With increased longevity, such individuals are susceptible to differing
medical and psychiatric disorders, including visual impairment (Caputo,
et al, 1989;
Hestnes et al, 1991), hearing loss (Yeates,
Evenhuis, 1992), thyroid dysfunction (Pueschel
and Pezzullo, 1985;
and Carpenter, 1990), dementia (Oliver
and Holland, 1986;
Prasher and Krishnan, 1993) and depression (Collacott
and Cooper, 1992;
Burt et al, 1992). Consequently there is a need for an overall assessment
of the health of adults with Down syndrome.
Evidence demonstrating the need for an assessment of medical problems for
adults with Down syndrome is available from two sources; findings for people
with learning disability as a whole (Jacobson
and Janicki, 1985;
and Haire, 1990) and from findings for children with Down syndrome (Howells,
1989; Cooley and Graham, 1991). However, extrapolation of findings from
these groups to adults with Down syndrome is inappropriate and likely to
Certain disorders are specifically associated with adults with Down syndrome,
e.g. cataracts, and therefore under-represented in other groups. It is important
for adults with Down syndrome to be assessed as an independent group. The
author is unaware of any large scale study of adults with Down syndrome
investigating rates of different physical disorders present in this population.
This research study investigates this important area of research.
Adults with cytogenetically and/or clinically proven Down syndrome were
recruited for the study. Both community residents, living in their family
home or in small community units, along with hospital residents were assessed.
Severity of learning disability was assessed by review of previously reported
intelligence tests' results, previous level of functioning as determined
by review of medical notes, from carer interview and from mental state examination
of the individual. Severity of learning disability was classified using
ICD-10 criteria (WHO,
For each individual, carers were interviewed to elicit a past history of
any medical condition and to elicit any symptoms suggestive of an ongoing
medical illness. Previous hospital records and, where necessary, general
practitioner records were reviewed to confirm the existence of a past or
present disorder. All individuals were interviewed and again, a history
taken to elicit any symptomatology suggestive of any medical disorder. Medication
prescribed was recorded.
Table 1. Past medical history findings for sample of 201 individuals
|inguinal hernia repair
|partial amputation penis
|bilat hip replacement
|congenital absent eyes
||ear drum perforation
A standard physical examination was undertaken, involving a detailed assessment
of the person's height, weight, cardiovascular, respiratory, abdominal,
genitourinary and neurological systems. Visual acuity was assessed using
a graded picture test based on Snellen's chart described by Kay (Kay,
1983). An external examination of the eyes and ophthalmoscopy was undertaken
to assess for cataracts, strabismus, keratoconus and nystagmus. Hearing
acuity was assessed using whisper speech and distraction tests. Presence
of cerumen was assessed by otoscopic examination. Venesection was performed
for haematological, biochemical and thyroid status.
Two-hundred and one adults with Down syndrome participated in this study,
sex distribution being 102 (50.7%) males and 99 (49.3%) females. The mean
age of the sample population was 42.22 years (standard deviation [SD] 12.51;
standard error [SE] 0.88; range 16-76 years). The majority of the individuals
were living in the community, with 73 (36.3%) living in supervised community
units and 85 (42.3%) living in their family homes. Forty-three (21.4%) were
resident in the hospital setting. Thirty-eight (18.9%) individuals had mild
learning disability, 134 (66.7%) had moderate and 27 (13.4%) had severe
impairment, and two were unknown.
Several past medical disorders were reported and these are given in Table
1. The commonest disorders were epilepsy, in 16 (8.0%) individuals, skin
pathology in 16 (8.0%) subjects and respiratory problems in 16 (8.0%).
The majority of individuals, 138 (69%), were co-operative with the physical
examination, but 45 (22%) were mildly unco-operative, requiring encouragement
from carers and 18 (9%) were unco-operative with most part of the examination.
Findings for medical problems of the sample population are given in Table
The resting heart rate was measured for 190 (95.5%) subjects. The mean rate
was 65 beats per minute (SD 5.19, SE 0.38, range 58-85). For males the mean
value was 64 beats/min and for females 65 beats/min (no statistically significant
difference, t-test=1.01; P=0.32). The rates were skewed towards the lower
end of the normal distribution. The mean resting heart rate for the general
population is 72 beats/min (range 60-100). The findings suggest adults with
Down syndrome have lower resting heart rates than the general population
Table 2. Physical findings for sample population
||All subjects below
mean for non-
||-scars from previous surgery
|*Determined by body mass index - underweight
= <21, overweight = >24, obese = >29
Blood pressure measurements were available for 183 (93%) subjects. The mean
systolic reading for the sample population measured was 115 mmHg (SD 13.1;
SE 1.0, range 80-180) and a mean diastolic reading for the sample of 75
mmHg (SD 7.97; SE 0.59, range 50-100). No sex difference was found. There
was a significant positive correlation between increase in age and increase
in systolic and diastolic blood pressure readings (Pearson's product-moment
coefficient 0.28; P<0.001 for systolic and 0.23; P<0.05 for diastolic; Figure
1). Seven individuals had diastolic readings over 90 mmHg and five individuals
had systolic readings over 150 mmHg. However, there was only one case of
hypertension (raised diastolic [>90 mmHg] and systolic [>140 mmHg]) with
readings of 180/100 mmHg.
Blood pressure changes for the non-learning disabled population as determined
by age (Hamilton et al, 1954) are also shown in Figure 1. Findings for the
sample with Down syndrome show that mean diastolic and systolic blood pressures
are below those of the non-learning disabled population (115/75:120/80).
Also the increase in blood pressure with age is less marked for people with
Down syndrome as compared to the non-learning disabled population.
Twenty-three (12.2%) of 189 individuals examined were found to have a cardiac
murmur, but only one had associated heart failure. Virtually all murmurs
were systolic in origin, except for one person with both diastolic and systolic
murmurs. Of the 23 individuals with cardiac murmurs five (22%) had keratoconus.
This is a statistically significant finding (Chi-squared test with Fisher's
Exact probability, P<0.05).
Although occasional abnormalities were seen, no consistent significant pathology
of the respiratory and abdominal systems was found. The commonest abnormality
of the musculo-skeletal system was presence of flat feet (70%). Other occasional
findings included one person with active arthritis of the knee, one person
with gout of the large toe, another with longstanding abnormalities of leg
size asymmetry and one person with congenital limb deformities. Neurological
changes associated with dementia were seen, e.g. increased muscle tone,
bed-ridden contractors but complications secondary to Atlanta-axial instability
were not found.
The majority of subjects were overweight or obese. One hundred and fifty
(81%) of those examined (N=186) had values of body mass index (weight/height
x height; BMI) above the recommended level (>24). A degree of hair loss
was seen in 37 (18.4%) of individuals. Five (2.5%) individuals had alopecia
totalis. Excessive dry skin (xerosis) was seen in 79 (39.3%) of the sample,
along with onychgrophosis in 40 (20%) subjects, unchomycosis in 10 (5%)
and eczema 20 (10%) subjects.
Figure 1. Blood pressure distribution for Down syndrome and non-learning
The genitalia were not examined in female subjects. This was thought by
the author to be inappropriate and beyond the remit of this particular study.
The external genitalia were examined in 72 of the 102 males in this study.
Twenty were unco-operative with the examination and 10 carers refused permission
for the examination. The majority had normal genitalia (53 [73.6%]) with
the commonest abnormal findings of undescended testis (one or both) in 11
(15.3%) males, hypogenitalia in 4 (5.6%) and phimosis in two individuals.
One individual had an inguinal hernia and another evidence of partial amputation
of the penis for malignancy.
One-hundred and ninety-two (95.5%) individuals had visual assessments performed.
The majority, 119 (62% of those examined) had no impairment of vision. Thirty-five
(18.3%) had significant impairment of vision (moderate or severe) leading
to a sensory loss. Of 193 (96%) individuals assessed for hearing function,
over two-thirds had no detected impairment. Twenty-three (11.5%) had significant
clinical impairment. Three (1.5%) cases were of severe hearing loss. One-fifth
(19.7%) of the sample tested had moderate amount of cerumen present.
Haematological results were available for 147 (73.5%) of individuals. Of
the 54 individuals who did not have results available, 39 (18.9% of the
individuals) were unco-operative with venesection and 16 (8.0%) were co-operative
but had failed venesection (no success after two attempts). The mean values
for the different haematological parameters are given in Table 3.
Table 3. Haematological findings for sample population
||Mean Value (Normal value)
|Red blood cell count (RBC)
||4.71 x 1012/1 (4.2-5.7 x 1012/1)
||4.37 x 1012/1 (3.8-5.1 x 1012/1)
||14.65 g/dl (13.4-17.0 g/dl)
||14.04 g/dl (11.4-15.0 g/dl)
|Packed cell volume (PCV)
||0.44 1/1 (0.40-0.50 1/1)
||0.43 1/1 (0.35-0.45 1/1)
|Mean cell volume (MCV)
||99.28 fl (90-98 fl)
|Mean cell haemoglobin (MCH)
||32.29 pg (28-34 pg)
||32.36 pg (27-33 pg)
|Mean cell haemoglobin concentration (MCHC)
||32.95 g/dl (30-35 g/dl)
|Red cell distribution width (RDW)
||218 x 109/1 (150-400 x 109/1)
|White blood cell count (WBC)
||5.53 x 109/1 (4.0-11 x 109/1)
||1.95 x 109/1 (2.0-7.5 x 109/1)
||1.11 x 109/1 (1.0-4.0 x 109/1)
||0.26 x 109/1 (0.2-0.8 x 109/1)
||0.10 x 109/1 (0-0.4 x 109/1)
||0.06 x 109/1 (0-0.1 x 109/1)
|Large undifferentiated cells
||0.08 x 109/1 (0-0.3 x 109/1)
|NS = not significant
Thirty-one (21%) individuals had haematological abnormalities requiring
further attention; ten had anaemia (haemoglobin below 13.4 g/dl for males
and below 11.4 g/dl for females), twelve with evidence of polycythemia on
full blood count (haemoglobin and packed cell volume above upper limits
of normal range), two cases with evidence of concurrent infections (raised
white blood cell counts) and seven with low platelet counts (below <150
x 109/l). Twenty-nine individuals had low white blood cell
counts (<4.0 x 109/l) with significant neutropenia (mean 1.95
x 109/l; normal range 2.0-7.5 x 109/l). The mean
MCV (mean cell volume) value for the sample with available results was 99.28
fl/l. A raised MCV (value of the MCV greater than 98.8 fl/l) was seen in
Only three of the 10 cases with anaemia were known previously. Of those
subjects with evidence suggestive of polycythemia, two individuals had clinically
important findings, both of whom were being managed for their condition.
Both cases with raised white blood cell counts were on antibiotics for chest
infections. None of the individuals with low platelet counts had been investigated
One-hundred and fifty (75%) of the sample had biochemical results available
(mean findings given in Table 4). As for haematological results some individuals
were uncooperative with venesection and others had unsuccessful venesection.
No consistent abnormality was found other than hypocalcaemia (calcium less
than 2.20 mmol/l). The mean value for the sample was 2.19 mmol/l (normal
range 2.20 - 2.26 mmol/l). Over half those tested (52%) had values below
the lower limit of the reference range.
Table 4. Biochemical findings of sample population.
||Mean Value (Normal value)
||Significance compared to non-LD
||39.1 g/l (35-50 g/l)
||9.1 micromol/l (up to 22)
||2.19 mmol/l (2.20-2.65)
||98.1 micromol/l (50-120)
||33.6 g/l (20-35 g/l)
||4.95 mmol/l (3.0-8.0 mmol/l)
||139.0 mmol/l (135-145 mmol/l)
||6.0 mmol/l (2.5-7.5 mol/l)
||4.4 mmol/l (3.5-5.0 mmol/l)
||79.3 IU/l (70-350 IU/L)
||Lower limit of normal
Hypocalcaemia may be related to a low albumin but the mean albumin level
for the sample was 39.1 mmol/l (normal range 36.0-48 mmol/l). Only 10% had
levels below the normal reference range. However, a highly significant positive
correlation between serum albumin and calcium was found (Pearson's product-moment
coefficient 0.62; P<0.001).
Idiosyncratic abnormalities for the differing biochemical variables were
found but only six individuals had findings of immediate clinical significance.
Four cases had hyperglycaemia; all four were known diabetics receiving treatment,
including regular medical input. These results show that their diabetes
was poorly controlled. One person had known renal failure (raised creatinine
and urea) and one person had raised alkaline phosphatase.
Thyroid function status was assessed in 160 subjects. Normal thyroid status
(normal thyroxine [T4] and thyroid stimulating hormone [TSH]) was found
in 104 (65%), subclinical hypothyroidism (normal T4, raised TSH) in 19 (11.9%)
subjects and definite hypothyroidism (low T4, raised TSH) in 13 (8.1%) of
subjects. Five (3.1%) subjects had biochemical evidence of hyperthyroidism
(raised T4, low TSH).
Physical disorders reported in adults with learning disabilities, with relatively
high prevalence rates include, obesity (45% in the study by
Wilson and Haire,
1990), sensory impairment (hearing 20%, ocular pathology 49% in study by
Larson and Lapointe, 1986) and epilepsy (Jacobson
and Janicki, 1985). In this study 81% of individuals examined were found
to be overweight or obese (BMI >24), significant impaired vision was present
in 18% and significant impaired hearing in 12% of those examined. A history
of epilepsy was found in 8% of subjects. Overall, obesity appears to be
particularly associated with Down syndrome, although other disorders are
of a similar magnitude to those found in the learning disability population
as a whole.
Although all the individuals in the study had normal resting heart rates,
the mean heart rate for the sample (65 beats/min) was significantly lower
than that for the non-learning disabled population (72 beats/min) and lower
than previously reported for people with Down syndrome by
Goldhaber et al.
(1987) of 72+/-10 beats/min. The sample size in the study by Goldhaber et
al. (1987) was only 35 individuals with a mean age of 26 years. This study
had a sample size five times that of Goldhaber et al.'s study and with an
older population. Few individuals presented with a tachycardia that may
have been associated with anxiety associated with undergoing a physical
The mean systolic blood pressure found was 115 mmHg and diastolic of 75
mmHg. Both readings were lower than those for the non-learning disabled
population (120/80 mmHg).
Goldhaber et al (1987) had reported values of
121 mmHg systolic and 72 mmHg diastolic for people with Down syndrome.
and Enver (1979) found blood pressure readings of 265 Down syndrome people
to be significantly below that for age-matched non-learning disabled individuals.
The finding of this study tend to support the findings of these latter researchers.
Further, Richards and Enver (1979) found that blood pressure readings increased
with age less dramatically in people with Down syndrome than in the non-learning
disabled population. Results of this study again confirm these findings,
blood pressure was found to be age-related in adults with Down syndrome
but the rise with age was less marked than seen for the non-learning disabled
population. Only one person had evidence of hypertension, suggesting people
with Down syndrome may not be vulnerable to this disorder.
Twelve percent of the sample had cardiac murmurs, usually with no associated
heart failure. Using echocardiography,
Goldhaber et al. (1987) found a much
higher prevalence of 71%. Without cardiological assessments using echocardiography
it is not possible to say whether such murmurs are due to, as previously
reported, to mitral valve prolapse or aortic valve regurgitation.
As reported by Howells in 1992, this study also found a significant association
between the presence of a cardiac murmur and keratoconus (P<0.05). Such
an association is probably due to connective tissue abnormalities, as similar
to people with Marfan's syndrome.
Overall, these cardiovascular findings are clinically very important and
suggest people with Down syndrome have significant differences to the non-learning
disabled population. Adults with Down syndrome have a lower mean heart rate,
lower age-specific blood pressures but a greater prevalence of cardiac valve
pathology. The former findings suggest adults with Down syndrome have a
lower risk for coronary heart disease but may be at greater risk of heart
Although people with learning disabilities and Down syndrome may suffer
from repeated upper respiratory infections and episodes of constipation,
significant respiratory and gastro-intestinal findings in adults are uncommon.
A prevalence of 7% for respiratory findings was reported by
Dean (1990) but no case of significant gastro-intestinal pathology. No individual
with significant respiratory or gastro-intestinal pathology was found by
Wilson and Haire (1990). In this study, upper respiratory infections were
found in three adults with Down syndrome, supporting other research which
found a low prevalence of serious pathology of the respiratory system in
people with learning disabilities. No active gastro-intestinal pathology
was found in the sample, although evidence of previous surgery was seen
in eight (4%) subjects. These findings support the view that significant
respiratory and abdominal pathology associated with Down syndrome are likely
to be diagnosed and managed in children rather than in adulthood.
Both internal and external genitourinary abnormalities have been described
in people with Down syndrome. In this study only external abnormalities
of the male genitalia were examined. Female genitalia were not examined
as this was thought by the author to be too intrusive for the remit of this
study. As reported in previous studies (Smith
and Berg, 1976;
Benda, 1969) relatively common abnormalities found in this study included
undescended testis and hypogenitalia. No clinical evidence of undiagnosed
tumours was found.
An association between atlanto-axial and atlanto-occipital instability and
Down syndrome is now well established (Pueschel et al, 1992;
et al, 1993). Such an association has been reported using radiological examinations.
Clinical presentation remains controversial with recent reports suggesting
the risk of neurological complications secondary to the cervical instability
has been over-represented (Cooke
and Landsdale-Welfare, 1991). In this study neurological symptoms were
present, but usually in the context of a dementing process. There was little
evidence to suggest elderly subjects with Down syndrome had developed neurological
complications secondary to cervical instability.
The reference ranges recited for the differing haematological and biochemical
parameters apply to 95% of the non-learning disabled population. There is,
therefore, a one in twenty chance of a result being 'abnormal.' Not surprisingly,
in this study of 201 subjects the occasional finding was found to be outside
the appropriate range.
Several haematological results required further assessment (anaemia, polycythemia,
raised white blood cell count and low platelet count). Seven of the ten
individuals with anaemia were unknown and required supplement therapy. Two
of the 12 with polycythemia required medical intervention and both were
receiving this. This also applied to the two subjects with raised white
blood cell counts for chest infections, both being treated with antibiotics.
None of the seven with low platelet counts had been investigated further.
Two haematological abnormalities consistently found for the sample population
were increase in the mean red cell volume (macrocytosis) and low neutrophil
count (neutropenia). The former is well recognised in people with Down syndrome
Wachtel and Pueschel, 1991). In this study approximately half of those
tested (47.9%) had macrocytosis. The underlying cause of macrocytosis is
unknown but is not in the vast majority of cases due to some other medical
disorder e.g. vitamin B12 of folate deficiency.
Abnormalities in the neutrophil count in people with Down syndrome are known
and Berg, 1976) but low blood counts for adults with Down syndrome have
not been previously recognised. Further research is required to investigate
the significance of a low neutrophil blood count.
As per haematological results, occasional abnormalities of biochemical parameters
were found but the only significant finding for the sample as a whole was
hypocalcaemia (mean 2.19 mmol/l). Over half of those tested had plasma calcium
levels below the lower limit of the reference range (<2.20 mmol/l). Hypocalcaemia
was positively associated with levels of plasma albumin (P<0.001). Although
hypocalcaemia has been recognised in children and young adults with Down
et al, 1958;
and Lewis, 1958) it has not been reported in older individuals. The
association with albumin has not been demonstrated previously. Further research
is required to investigate the clinical significance of low plasma calcium
in individuals with Down syndrome.
Four cases of hyperglycaemia were found, all known diabetics. As with thyroxine
replacement therapy, close monitoring of anti-diabetic medication is required
as the findings of this study suggested poor diabetic control.
This study, as reported previously, found a high prevalence of thyroid dysfunction
(35%) in people with Down syndrome. However, this is the largest study of
adults with Down syndrome to be reported and the first to investigate a
significantly older population with Down syndrome. Subclinical hypothyroidism
was found to be the commonest abnormality (11.9%), but a significant number
had definite hypothyroidism (4%). No case of clinical hyperthyroidism was
As demonstrated by this study, adults with Down syndrome suffer from a high
prevalence of physical disorders. Medically significant physical disorders
include, sensory impairment, overweight and obesity and thyroid dysfunction.
Individuals with Down syndrome may not be able to communicate any pain or
discomfort associated with a given illness. Ill health may be masked and
may result in missed or misdiagnosis of psychiatric and physical illness.
Complications may follow, ultimately, proving to be fatal.
In order to ensure, therefore, that appropriate healthcare is provided to
adults with Down syndrome, health services must be aware of the diagnosis,
treatment and management of such medical disorders that occur in this population.
An active screening programme must be implemented.
An effective provision of such a service is best provided by access to good
quality primary healthcare, and regular contact with the learning disability
services. Individuals themselves and their carers need to be educated about
the health difficulties and disorders that need to be observed. Better liaison
between the general hospital services and psychiatric services with possibly
joint assessments could prove the way forward.
Healthcare provision does need to be improved for people with Down syndrome
and people with learning disabilities as a whole. This may involve employing
staff with different skills to assess any given morbidity, to maximise the
individual's own skills and to ensure that a high level of services is provided
by carers who are also given support. Regular assessments from medical staff
is a prerequisite.
With improved life expectancy of people with Down syndrome, older individuals
are more vulnerable to physical, sensory and psychiatric morbidity. The
development of a high quality comprehensive service is essential to ensure
a good quality of life.
- Acuity: Sharpness (of vision).
- Alopecia totalis: Complete absence of hair.
- Atlanto-axial instability/atlanto-occipital instability: X-ray examinations
of the neck which are claimed to be associated with instability of the upper
vertebrae of the neck.
- Cerumen: Ear wax.
- Contractures: Shortening of muscles due to fibrous change.
- Creatinine and urea: Substances which are measured in the blood as tests
of kidney function.
- Cytogenetically: Related to genetic structure of the cell.
- Diastolic: That part of the blood pressure associated with the relaxation
of the ventricles.
- Echocardiography: The use of sound waves to investigate the heart.
- Hyperglycaemia: High blood sugar.
- Hypocalcaemia: Low blood calcium.
- Inguinal (hernia): A protrusion of part of the bowel through a gap in
the lower abdomen.
- Keratoconus: Abnormal conical shape of the cornea of the eye.
- Marfan's syndrome: An inherited disorder characterised by long fingers
and toes, defects to the heart and eyes.
- Mean cell volume: An expression of the size of the red blood cell.
- Morbidity: The state of being diseased.
- Neutropenia: Decrease in the number of neutrophils in the blood.
- Neutrophil: A form of white cell which kills bacteria.
- Nystagmus: Rapid short movements of the eye.
- Onychogryphosis: Abnormal thickening of the nail.
- Ophthalmoscopy: Examination of the retina of the eye.
- Otoscopic: To do with the ear.
- Packed cell volume: An expression of the amount of haemoglobin in the
- Phimosis: Narrowing of the opening of the foreskin.
- Phosphatases: A group of enzymes which may be measured in the blood.
- Polycythemia: An increase in the haemoglobin concentration of the blood.
- Strabismus: Squint.
- Symptomatology: The symptoms of disease.
- Systolic: That part of the blood pressure associated with the contractile
phase of the heart.
- Tachycardia: Rapid heart beat.
- Thyroxine replacement therapy: Treatment with the thyroid hormone.
- Unchomychosis: Disease of nails of fingers and toes.
- Venesection: Taking a blood sample from a vein.
- Xerosis: Abnormal dryness of eyes, skin or mucous membranes.
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See and Learn Speech is designed to help parents and educators support children with Down syndrome to develop clearer speech.
See and Learn Speech offers a structured approach to support speech development, working in small steps towards clearer speech production.
Now available as teaching kits and apps.
Find out more...