Learning disabilities and language pathology in ...

Logopedics Phoniatrics Vocology

ISSN: 1401-5439 (Print) 1651-2022 (Online) Journal homepage: http://www.tandfonline.com/loi/ilog20

Learning disabilities and language pathology in patients with galactosemia Randi Korsvig Rasmussen, Anne Berit Andreassen, Petter Strømme & Thor Willy Ruud Hansen To cite this article: Randi Korsvig Rasmussen, Anne Berit Andreassen, Petter Strømme & Thor Willy Ruud Hansen (1996) Learning disabilities and language pathology in patients with galactosemia, Logopedics Phoniatrics Vocology, 21:3-4, 157-162, DOI: 10.3109/14015439609098884 To link to this article: http://dx.doi.org/10.3109/14015439609098884

Published online: 11 Jul 2009.

Submit your article to this journal

Article views: 25

View related articles

Citing articles: 2 View citing articles

Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=ilog20 Download by: [University of Oslo]

Date: 29 August 2017, At: 04:15

ORIGINAL ARTICLE

Learning disabilities and language pathology in patients with galactosemia Randi Korsvig Rasmussen,’ Anne Berit Andreassen,2 Petter Strcamme3 and Thor Willy Ruud Hansen3* From the Departments of ‘School Hospital Teaching and 3Pediatrics, Rikshospitalet, University of Oslo and ‘The National Center for Logopedics, Oslo. *Current address: Neonatal Critical Care, Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

Downloaded by [University of Oslo] at 04:15 29 August 2017

Log Phon Vocol 1996; 21: 157-162

In spite of adequate dietary regimen, many patients with galactosemia have developmental abnormalities. We studied 8 patients with galactosemia, aged 9 months to 19 years who had all been treated with a galactose-free diet from an early stage. Neurological functioning, general developmental, and language and speech development were assessed in all cases. The results show that even medically well treated children and young adults with galactosemia are at risk to develop disabilities, including mental retardation, speech and language disabilities. Verbal dyspraxia was diagnosed in 3 of 6 patients, who had acquired verbal language, all with IQ 70 or below. This may indicate that verbal dyspraxia is just one symptom among others in patients with galactosemia and mental retardation. Key words: galactosemia, mental retardation, language disorder, verbal dyspraxia. Randi Korsvig Rasmussen, Center for Mental Retardation, The National Hospital of Norway, N-0027 Oslo, Norway.

INTRODUCTION Galactosemia is an inborn error of metabolism which is caused by a deficiency of the enzyme galactose-lphosphate uridyl transferase which converts galactose to glucose. The incidence of galactosemia in Norway, based on clinical data from 1969 to 1986 was found to be about 1:96,000 (7). The clinical manifestations are believed to be due to toxicity of galactose, which is present in mammalian milk. Within a few days of ingesting galactose, liver, kidney and cerebral damage may develop in the newborn child. In some cases associated septicaemia may lead to death. Epilepsy and profound mental deficiency, develop in untreated survivors. The diagnosis of galactosemia is based upon the detection of excess galactose in the urine and confirmed by enzyme assays in red blood cells (17). Early treatment consisting of a rigorous, lifelong exclusion of galactose from the diet, leads to a substantially better development. Through clinical practice we became aware that despite adequate dietary regimens, several children with galactosemia, demonstrated developmental abnormalities, e.g. reduced intelligence quotient (IQ), and speech and language problems. This has also been reported by others (10,21, 22). It has been suggested that verbal dyspraxia, defined as a neurological defect seen as “a faulty programming of movements and 01996 Scandinavian University Press. ZSSN 0803-5032

sequences of movements for speech,” (3), is characteristic of the speech problems in galactosemia (12). To establish optimal educational and speech therapeutic programs, it is important to gain comprehensive information on cognitive development and the nature of speech and language pathology. In this paper we want to focus on these aspects in particular. More detailed results from medical and neurological examinations of these patients have been presented elsewhere (8). METHODS Subjects

At the Department of Pediatrics, Oslo, medical records of 16 patients with galactosemia, born 1958-1991 were obtained. Eight patients, three girls and five boys, age range from 9 months to 19 years, were included in the study. Of the eight patients not taking part in the study, two were dead, for two consent was not given, and one had left the country and was not available for followup. Three adults were not included in the study due to their age. The patients were diagnosed and started with strict diet between the ages of 2 and 11weeks. (Table 1).

Neurological investigation The following medical investigations were performed: General physical examination including clinical neuLog Phon Vocol21

158 R. K. Rasmussen et al. Table 1. Test results in 8 patients with early onset dietary treatment for galactosemia. Patient Age

Cognitive development Tests: Results

Language development Tests: Results

Verbal dyspraxia

Other speech abnormalities

Neurological investigation

1 0:9 2 1:6 3 3:O 4 6:3 5 6:lO 6 9:8 7 17:9 8 19:l

Griffith: 8 Griffith: 5 Leiter: 117 WF’PSI: 60 WISC-R: 70 WISC-R: 79 WAIS: 86 WAIS: 61

Griffith: 2 Griffith: 3 Reynell: 4 ITPA: 9 1 1 ITPA: 9:l

none moderate moderate none none mild

general delay general delay none articulation phonology word-finding none none

normal clumsy normal nystagmus, clumsy clumsy normal tremor ataxia

Onset of diet after birth (weeks)

3 5 11

5 3 10 4 2

Downloaded by [University of Oslo] at 04:15 29 August 2017

- not evaluated due to young age. Griffith and Reynell results: Staninescore.

rological evaluation, electroencephalogram (EEG), cerebral computed tomography (CT) and auditory evoked response (AER). Developmental evaluation Because of the age range of the patients, we used different tests. The Swedish standardization of Griffith Mental Developmental Scale (1) was administered to the two youngest patients. The results are given in staninescore. Leiter International Performance Scale was used on a 3-year-old boy because the Norwegian Wechsler Preschool and Primary Scale of Intelligence (WPPSI) is standardized from age 3:lO. Wechsler Intelligence Scales (WPPSI/WISC-R/ WAIS), the most used intelligence test in Norway, were used on the remaining 5 patients. Language evaluation The sub-scale “Hearing and speech” from Griffith’s Developmental Scale was applied for language assessment on the two youngest patients, 9 and 18 months of age. There are no other language tests used in Norway to evaluate children aged up to 18 months. One threeyear-old boy who was tested with Reynell Developmental Language Scales (16) because Illinois Test of Psycholinguistic Abilities (ITPA) (11) has an age range of 4 to 9 : l l years. Five subjects were tested with ITPA. We used psycolinguistic age (PLA) as a measure of language development. ITPA is standardized in Norway and known to professionals working in special education.Two boys were above the age range for ITPA, but the test was nevertheless administered to give an indication of possible language pathology.

Speech evaluation The investigation of verbal dyspraxia included labelling of pictures, verbal expression of action depicted in drawings, describing picture-sequences and repeating of phonemically complex words. An oral examination was included as well as a test of motor skills. Finally, Log Phon Vocol21

there was an interview with the parents concerning the general verbal and motor development of the child. Developmental dyspraxia of speech was assessed according to a list (Table 2) of speech characteristics commonly found in this speech disorder (5,6, 1.5).We have added one criterion to the list according to Norwegian phonology where voiceless stops should be aspirated in certain positions. The diagnosis of verbal dyspraxia was based on a cluster of symptoms listed in Table 2. The severity of verbal dyspraxia was scored and based on a number of characteristics, as well as the clinical judgement of the speech therapist. Mild verbal dyspraxia was diagnosed if the intelligibility of speech was normal during conversation, but residual effects of the condition were detectable. Moderate verbal dyspraxia was diagnosed if the intelligibility of speech was effected sufficiently to interfere with listeners understanding. Severe verbal dyspraxia was diagnosed if the intelligibility of speech was effected so noticeably that less than half of the words, phrases, or conversational attempts were understood by the examiner. RESULTS The results are summarized in Table 1. Neurological findings Five patients demonstrated mild to moderate neurological abnormalities on clinical examination. The most common finding was a generalised motor clumsiness (3 patients). Focal neurological signs were present in two cases, one with cerebellar ataxia and one with nystagmus. The nystagmus was probably secondary to severe visual impairment caused by dense congenital bilateral cataracts. One patient demonstrated a positional hand tremor, which was considered to be of an essential type, and did not interfere with his work as a carpenter. Cerebral CT obtained in the first few weeks of life in the two youngest patients showed generalized periventricular hypodensity of the white matter.

159

Developmental and language disabilities in galactosemia Table 2. The check list according to Pollock ef aL, 1991. Speech variables

P1 0:9

P2 1:6

Downloaded by [University of Oslo] at 04:15 29 August 2017

Inconsistenthanable errors Increase of errors as length of complexity increases Inconsistent performance within and between sessions Two or three phoneme features in error Inconsistent nasal voice qualityhasal ommission Presence of groping/silent posturing Slow progress in treatment Prosodic disturbances Slow and imprecise diadochokinetic speech rates Co-occurring characteristics Slow development of speech skills Reported family history of language disorders Presence of non-verbal oral apraxia Presence of language disorders Presence of word-finding problems Presence of academic learning problems Presence of “soft” neurological signs

P3 3:O

P4 6:3

P5 6:lO

X

X X

X

P6 9%

X

P7 17:9

P8 19:l

X

X

X

X

X X

X

X

* Problems with aspirated stops

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

X

* This variable is added by us.

However, later CT scans, after treatment, were both normal, as were CT in all the other patients. EEG was normal in all cases, apart from one who had episodes of generalised theta-delta slow wave activity.

Intellectual development Half of the patients had low IQs, two in the subnormal range (IQ 70-84), and two had mild mental retardation (MMR, IQ 55-69). Four patients had a normal, or above normal total score on the developmental tests used. General language development Patient 4, with MMR, had a PLA less than 4 years. That is more than 2; years below chronological age (CA). The oldest of the 2 MMR patients, age 19:l had a PLA of 9:l years. However, although he showed a fairly good language development, he did not attain top scores on ITPA. Patients 5 and 6 with IQs in the subnormal range, had a PLA approximately 2 years below CA. Patient 6 also had word-finding problems. Patients 1 and 2 evaluated with the Griffith Scales showed a performance on the “Hearing and Speech” scale about

2 months below the total score. Patient 7, age 17:9, with an IQ in the normal range had top score on ITPA, thus showing a normal language development. Patient 3 with an IQ above normal, showed a normal development on the Reynell subtests dealing with comprehension. The subtests for expressive language were not completed due to intercurrent illness.

Speech evaluation The results of the speech evaluation are summarized in Table 2. Three patients could, according to our check list, be diagnosed to have verbal dyspraxia. Patient 4 had slow and imprecise diadochokinetic speech rates that occurred like weak movements of articulation. He had several phonemic features in error. The errors also seemed to be inconsistent and variable because he sometimes changed his articulation of the same speech sound between a more posterior and anterior position in the speech channel. This is not similar to the phonological processes named backing and fronting, but it appears to be difficult to find the correct articulating places in the speech channel. Log Phon Vocol21

Downloaded by [University of Oslo] at 04:15 29 August 2017

160 R. K. Rasmussen et al. Sometimes this patient assimilated sounds from one word to another. He had prosodic disturbances resulting in a staccato-like speech. This patient also had problems with aspirated stops in Norwegian. He had syntactic, morphological and semantic problems. He had difficulty finding words, and was slow in academic learning. He also demonstrated non-verbal oral dyspraxia. In addition, he seemed to have problems with the control of the speech levels and speech effort. He was evaluated to have a mild degree of verbal dyspraxia. Patient 5 had delayed and deviant phonological development. The errors were inconsistent and variable. He had problems with correct articulation of vowels and seemed to have difficulty programming the articulation movements. The errors increased with the length and complexity of the utterances. He had inconsistent performance within and between sessions, and had several phonemic features in error. The speech rate was slow and imprecise. His development of speech skills had been slow and he had very slow progress in treatment. Other language disorders and academic learning problems were also present. He had oral dyspraxia and moderate verbal dyspraxia. Patient 8 had a slow and imprecise rate of speech. He had difficulties with phonemic complex words and problems with consonant clusters that included the /r/ phoneme. The speech problems increased as the length and complexity of the words increased. His development of speech skills was slow. He also had non-verbal oral dyspraxia and a mild degree of verbal dyspraxia. This patient was also the oldest and had probably overcome most language based speech problems. The other patients had few problems according to the check list, and could therefore not be defined as having verbal dyspraxia. DISCUSSION Developmental evaluation showed that half of the patients were either mentally retarded, or had subnormal IQ, without any other identifiable etiology than galactosemia. In addition, the two patients tested with Griffith had substantially lower score on the sub-scale “Hearing and speech” than on the other scales. It seems reasonable to assume that the “Hearing and speech” scale is more cognitively loaded than the remaining four scales. This could be an indication that these two patients may be at risk for subnormal cognitive and language development. We may therefore conclude that galactosemic children run a high risk of developing cognitive impairment despite adequate dietary treatment. This has also been shown by others (18,21). The general language delay in some of the patients tested with ITPA is not seen as a specific language deficit, but Log Phon Vocol21

as a deficit, being part of a general retarded development. Waggoner et al. (21) described a decline in IQ in galactosemics with increasing age, possibly as a result of postnatal metabolic disturbances of cerebral functions. Serial IQs were not performed in our patients, however. Late onset of symptoms may be related to a milder form of disease and more favourable outcome, as the patient with the highest age at the time of diagnosis also had the highest IQ beside normal neurological and language development. All patients in our study who were diagnosed with verbal dyspraxia, also had IQs in the subnormal or MMR range. In present literature on verbal dyspraxia the definition of this term is not clear, particularly when applied to children who might not have finished their phonological development. The term “dyspraxia” was originally used to describe an articulatory difficulty in adults with acquired speech and language disorders. The terminology and diagnostic criteria have been applied to the developmental speech-disordered population without sufficient modification. Consequently, “dyspraxia” has become an umbrella term for children with persisting and serious speech difficulties in the absence of obvious causation, regardless of the precise nature of their unintelligibility (Stackhouse, 1992). Huskin (9), like Stackhouse (19), pointed out the association between verbal dyspraxia and aphasia. Some of the characteristics of verbal dyspraxia are considered more typical for this speech disorder than others, such as prosodic disturbance (4), wove1 problems (15), inconsistent patterns of errors (24), and problems with syllable structure and motor coordination. These speech problems are observed in mentally retarded children as well as in children with specific language impairment. In young children it is difficult to tell whether these speech problems are due to delayed and/or deviant phonological development, immature oral motor praxis or verbal dyspraxia. Nelson et al. (12) found a high incidence of verbal dyspraxia in patients with galactosemia, indicating a specific association between verbal dyspraxia and galactosemia. Our study also showed a high incidence of speech patterns usually associated with verbal dyspraxia. As in Nelson’s (13) study, verbal dyspraxia is often associated with diminished IQ. We consider that it is important to relate verbal dyspraxia as one possible symptom among others in patients with aphasia, mental retardation and galactosemia. Undoubtedly, the differential diagnosis between

Developmental and language disabilities in galactosernia 161

Downloaded by [University of Oslo] at 04:15 29 August 2017

specific language impairment, hnctional articulation problems and verbal dyspraxia is important, since children with verbal dyspraxia apparently fail to make progress in conventional speech therapy (14). Despite adequate diet, some patients with galactosemia develop general learning disabilities and speech and language pathology. The reason for this is unclear, but the list of symptoms often found in patients with galactosemia stress the importance of a multi-professional team in evaluation of the patients and in planning educational programs. Our findings show that there is a need for a comparative language study of mentally retarded children with and without galactosemia and children with other metabolic diseases. This could give us some information on possible language difficulties in different groups of mentally retarded children.

FURTHER IMPLICATIONS The techniques often applied in connection with dyspraxia challenge the intellectual capacity of the patients. If verbal dyspraxia can also be diagnosed in patients with mental retardation, the diagnostic evaluation is extremely important in order not to institute training programs that are beyond the intellectual capacity of the child. In a recently published article on verbal dyspraxia in galactosemia Nelson (13) suggests special methods used for treatment. Speech intervention programs working with breathing and articulation, visual-, kinestetic-, and tactile feedback, movement sequences and vocabulary should be used with adults and intellectually normal functioning school children. We suggest that language intervention strategies applied to young children and mentally retarded children should be integrated with daily social routine. The intervention approaches should be reformulated into new categories, such as 1) shifting to learner-oriented approaches, 2) attending to the learner's social context, 3) embedding training into meaningful activities, 4) broadening the focus to pre-linguistic behavior, 5 ) adopting more comprehensive and cohesive intervention approaches. Naturally, this requires more planning and individual adjustment (23). Multi-professional evaluation of the patients is nevertheless important in order to give the teacher a greater understanding of what to expect and how to make up individual training programs.

REFERENCES 1. Alin-hierman B, Nordberg L. Griffith's utvecklingsskalor I och 11. Psykologiforlaget ab. Stockholm. 1991. 2. American Psychiatric Association. Diagnostic and

Statistical Manual of Mental Disorders. (4" ed.) Washington D.C. 1994. 3. Darley FL, Aronson AE, Brown JR. Motor speech disorders, pp. 250-269. Philadelphia: Saunders. 1975. 4. Edwards M. Disorders of Articulation. New York: Springer Verlag. 1984. 5. Hall PK. The Occurrence of Developmental Apraxia of Speech in a Mild Articulation Disorder: A Case Study. J Commun Disord 1989; 22(4): 265-276. 6. Hall PK, Hardy J, Lavelle W. A child with signs of develpmental apraxia of speech with whom a palatal lift prothesis was used to manage palatal dysfunction. J Speech Hear Disord 1990; 55: 454460. 7. Hansen TWR, Helland GF, Lund 0, Spangen S, Torgner I. Galactosemi i Norge. Tidsskr Nor hgeforen 1987; 107: 2325-2328. 8. Hansen TWR, Henrichsen B, Rasmussen RK, Carling A, Andreassen AB, Skjeldal OH. Neuropsychological and linguistic follow-up studies of children with galactosemia from an unscreened population. Acta Paediatr 1996; 85: 1197-1201. 9. Huskin S. Working with Dyspraxics. Place: Winslow Press. 1986. 10. Lo W, Packman S, Nash S, Schimdt K, Ireland S, Diamond I, Ng W, Donell G. Pediatrics 1984; 73: 309-312. 11. Kirk SA, Kirk W. Psycholinguistic learning disabilities. University of Illinois Press. Norwegian edition: Gjessing ELI, Nygaard HD (1980). Oslo: University Press. 1968. 12. Nelson CD, Waggoner DD, Donell GN, Tuerck JM, Buist NR.. Verbal Dyspraxia in Treated Galactosemia. Pediatrics 1991; 88: 346-350. 13. Nelson D. Verbal dyspraxia in children with galactosemia. Eur J Pediatr 1995: 154 (SUDD~ 2): 6-7. 14. Pannbacker M. Management itratigies of developmental apraxia of speech: a review of literature. J Commun Disord 1988; 21: 363-371. 15. Polloc KE. Hall PK. An analvsis of vowel misarticulations of five children with hevelopmental apraxia of speech. Clin Linguist Phon 1991; 5(3): 207-224. 16. Reynell, J, Huntley, M. Reynell Developmental Language Scales. Norwegian edition: Hagtvet B, Lillestglen, R. (1985). Oslo: University Press. 1985. 17. Segal S, Barry GT. Disorders of galactose metabolism. In CR Scriver, AL Baudet, WS Sly, D Valle, (Eds.). The metabolic and molecular bases of inherited disease, pp. 967-1012, 7th ed. New York: McGraw-Hill. 1995. 18. Schweitzer S, Shin S, Jacobs C, Brodehl J. Long term outcome in 134 patients with galactosemia. Eur J Pediatr 1993; 152: 36-43. 19. Stackhouse J. Developmental verbal dyspraxia I: A review and critique. Eur J Disord Commun 1992; 27: 19-34. 20. Stackhouse J, Snowling M. Developmental verbal dyspraxia 11, a developmental prespective on two case studies. Eur J Disord Commun 1992; 27: 35-54. 21. Waggoner DD, Buist NRM, Donell GN. Long-term Prognoses in Galactosaemia: Result of a Survey of 350 Cases. J Inher Metab Dis 1990; 13: 802-818. 22. Waisbren SE, Norman TD, Schnell RR, Levy HL. Speech and language deficits in early-treated children with galactosemia. J Pediatr 1983; 102: 75-77. 23. Warren SF, Reichle J. Causes and Effects in Communication and Language Intervention. Paul H. Brookes Publishing Co. Baltimore, Maryland, USA. 1992. Log Phon Vocol21

162 R. K. Rasmussen et al. 24. Williams R, Packman A, Ingram R, Rosenthal J. Clinical agreement on behaviors that identify developmental articulatory dyspraxia. Aust J Hum Commun Disord 1980; 8(1): 16-20.

Downloaded by [University of Oslo] at 04:15 29 August 2017

SAMMENFATNING Llerevansker og spriikpatologi hos pasienter med galaktosemi Galactosemi er en medfgdt stoffskifteanomali hvor pasientene mangler et enzym som omdanner galactose ti1 glucose. Ubehandlet fgrer sykdommen ti1 hjerneskader og skader p i lever og nyrer. Sykdommen diagnostiseres i de forste leveukene og behandlingen bestir i livslang diett hvor all mat som inneholder galactose ekskluderes. Inntil nylig mente en at en slik diett-behandling f0rte ti1 en normal utvikling. Egen klinisk erfaring og studier publisert i internasjonal faglitteratur viser at flere pasienter med god diettregulering likevel fir utviklingsforstyrrelser som mental retardasjon, sprdk- og talevansker. Artikler om galactosemi og sprdkvansker fremhever verbal dyspraksi som en spesifikk sprdkvanske i pasientgruppen. Vir studie omfattet 8 pasienter i alder 9 mdneder ti1 19 ir. Alle pasientene ble underscbkt av nevrolog. Generell kognitiv utvikling ble milt med Griffiths utviklingskala, Leiter utforingstest og tester fra Wechsler-serien. Generell sprikutvikling ble vurdert p i grunnlag av sprdkskalaen fra Griffith, Reynell og ITPA. Verbal dyspraxi ble vurdert etter en sjekkliste vist i Tabell 2. Fem pasienter hadde utfall p i de nevrologiske provene. 50% skiret under normalomridet p i tester som miler generell kognitiv utvikling. De to yngste pasientene hadde en samlet utviklingsalder pH Griffith innen det en kunne forvente ut fra alder, men skalaen “horse1 og tale” viste lavere skire enn samlet utviklingsalder. For de gvrig pasientene var generell sprikutvikling, testet med ITPA, i samsvar med kognitiv funksjon. Tre pasienter hadde verbal dyspraksi. Analyse av sprik og tale viste sprikpatologi som ordfinningsproblemer, syntaktiske vansker og avvikende fonologisk utvikling. Studien bekrefter at barn med en velbehandlet galaktosemi har okt risiko for Q utvikle mental retardasjon av ulik grad. Den generelle sprlkretardasjonen hos enkelte pasienter kan ikke sees som en spesifikk spriksvikt, men som del av en generell retardert utvikling, Alle pasientene med verbal dy spraksi hadde kognitiv utvikling under normalomridet. Verbal dyspraksi er vanskelig i diagnostisere hos barn som enda ikke har fullfort sin fonologiske utvikling og

Log Phon Vocol21

er lite utredet hos mentalt retarderte. Vi ser ikke denne sprikvansken som spesifikk for pasienter med galaktosemi, men vurderer den som en av flere mulige sprikvansker hos denne pasientgruppen. Det brede spekteret av lmevansker og spr%patologi som fremkommer, understreker behovet for en tverrfaglig vurdering som grunnlag for tiltak. YHTEENVETO Galactosemia -potilaiden oppimisvaikeudet ja kielelliset hairiot Galactosemia on synnynnaisen entsyymivajeen aiheuttama kyvyttomyys muuttaa galaktoosia (maitosokeria) glukoosiksi. Hoitamattomana sairaus aiheuttaa aivo-, maksa- ja munuaisvaurioita. Sairaus diagnosoidaan ensimmaisina elinviikkoina ja hoitona kaytetaan elinikaista dieettia. On ajateltu, etta dieettihoidolla turvataan normaali kehitys. Omat kokemukset ja kirjallisuusdessa esitettavat havainnot osoittavat kuitenkin, etta huolimatta dieettihoidosta esiintyy potilailla kehitysviipeita, kehitysvammaisuutta ja puheen- ja kielenkehityksen hairioita. Verbaalista dyspraksiaa pidetaan kirjallisuudessa ty ypillisena puheongelmana. Tutkimuksessa esitellaan kahdeksan yhdeksasta kuukaudesta 19 vuoteen ikaista potilasta. Neurologi tutki kaikki potilaat. Kognitiivinen kehitys tutkittiin Griffithin kehitysasteikolla, Leiterin suoritustestilla ja Wechslerin testin osioilla. Yleinen kielellinen kehitys arvioitiin Griffithin, Reynellin ja ITPA testien osioilla. taulukossa 2. esitetaan kaytetty verbaalisen dyspraksian tarkistuslista. Viidella potilaalla havaittiin neurologinen poikkeavuus. Kognitiivisen kehityksen suhteen 50% oli alle normaalitason. Nuorimmat potilaat todettiin alle keskitason kehittyneiksi “kuulo ja puhe”osioiden osalta. Kielen kehitys oli muilla ikatasolla (ITPA). Kolmella todettiin verbaalinen dyspraksia. Todettiin sananloytamisvaikeutta, syntaktisia virheita ja poikkeavaa fonologista kehitysta. Todettiin, etta huolimatta dieettihoidosta liittyy galaktosemiaan kehityshairioiden riski. Puhehairio on vain osa yleisempaa kehityshairiota. Kaikkien dyspraksia -potilaiden yleinen kognitiivinen kehitys oli alle normitason. Verbaalisen dyspraksian diagnostiikka on pienten lasten kohdalla vaikeaa ja sen esiintymista kehitysvammaisuuden yhteydessa on vahan tutkittu. Tama kielellinen hairio ei ole spesifi galaktosemia -potilaille. Laaja oirekirjo korostaa eri aloja edustavien ammattihenkiloiden yhteiston merkitysta.